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Chromosome Abnormalities (updated April 2003)

What information do you have on chromosome abnormalities ?

This file includes citations on chromosome abnormalities in general and on several specific types of chromosome abnormalities or genetic disorders, including:

  • Angelman Syndrome
  • Kabuki Make-Up Syndrome
  • Klinefelter's Syndrome
  • Lowe's Syndrome

Following are links to related Internet resources and Internet discussion groups, as well as selected citations from the ERIC database and the search terms we used to find the citations.

You can search the ERIC database yourself on the Internet through either of the following web sites:

NOTE: The primary focus of the ERIC system is education. While the ERIC database contains information on some medical disorders, you may want to search a medical database such as MEDLINE/MEDLARS at the National Library of Medicine, http://www.nlm.nih.gov, or PubMed http://www.ncbi.nlm.nih.gov/PubMed/ or MedWeb at Emory University, http://WWW.MedWeb.Emory.Edu/MedWeb/.

ERIC Citations

The full text of citations beginning with an ED number (for example, EDxxxxxx) is available:

  • In microfiche collections worldwide; to find your nearest ERIC Resource Collection, point your web browser to: http://ericae.net/derc.htm.
  • For a fee through the ERIC Document Reproduction Service (EDRS): http://edrs.com, service@edrs.com, or 1.800.443.ERIC. (no longer available)

The full text of citations beginning with an EJ number (for example, EJxxxxxx) is available for a fee from:

ERIC Search Terms Used

chromosome abnormalities

ED266563 EC181726
A Guide to Selected National Genetic Voluntary Organizations.
National Center for Education in Maternal and Child Health, Washington, DC.
Nov 1985; 137p. Sponsoring Agency: Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.
EDRS Price - MF01/PC06 Plus Postage.
Language: English
Document Type: DIRECTORY (132)
Geographic Source: U.S.; District of Columbia
Journal Announcement: RIEJUL86
The directory lists approximately 120 mutual support groups concerned with the medical and psychological impacts of genetic disorders and birth defects on individuals and their families. The groups are dedicated to serving the ongoing emotional, practical, and financial needs of these populations. The entries are arranged alphabetically and include information on name of organization, address, phone number, executive director, contact person, chapters/satellites, purpose, and educational materials (publications, audiovisuals, newsletters). Among conditions represented are acoustic neuroma, Alzheimer's disease, arthritis, autism, cerebral palsy, cystic fibrosis, Down syndrome, epilepsy, Friedreich's ataxia, hemophilia, Huntington's disease, hydrocephalus, leukemia, lupus, multiple sclerosis, Parkinson's disease, Prader-Willi syndrome, scoliosis, spina bifida, and Tourette syndrome.
Descriptors: *Congenital Impairments; *Genetics; Organizations (Groups); *Social Support Groups

EJ481086 CS747418
Cognitive and Academic Skills in Children with Sex Chromosome Abnormalities.
Bender, Bruce G.; And Others
Reading and Writing: An Interdisciplinary Journal, v3 n3-4 p315-27 Dec 1991
Special Issue: Genetic and Neurological Influences on Reading Disability.
ISSN: 0922-4777
Language: English
Journal Announcement: CIJAUG94
Follows 46 unselected children with various sex chromosome abnormalities using intellectual, language, and achievement testing. Notes that, although most children were not mentally retarded, most received special education help. Finds support for the inference that learning disorders were genetically mediated in this group. Descriptors: *Academic Achievement; Developmental Stages; Early Childhood Education; Elementary Education; *Genetics; Heredity; Language Skills; *Learning Disabilities; Thinking Skills
Identifiers: *Chromosome Abnormalities

EJ467145 HE531414
Scientific Goals of the Human Genome Project.
Wills, Christopher
National Forum: Phi Kappa Phi Journal, v73 n2 p9-11 Spr 1993
ISSN: 0162-1831
Language: English
Journal Announcement: CIJDEC93
The Human Genome Project, an effort to sequence all the DNA of a human cell, is needed to better understand the behavior of chromosomes during cell division, with the ultimate goal of understanding the specific genes contributing to specific diseases and disabilities.
Descriptors: *DNA; *Genetic Engineering; Objectives; *Research Needs; *Research Projects; *Scientific Research
Identifiers: *Human Genome Project

EJ356791 EC200006
Genetic Counseling.
Exceptional Parent, v17 n5 p44-45,47,49 Jul-Aug 1987
Language: English
Journal Announcement: CIJNOV87
Target Audience: Parents
Information is presented on a number of tests used in genetic counseling (e.g., genetic evaluation, chromosome evaluation, consideration of multifactorial conditions, prenatal testing, and chorionic villus sampling) which help parents with one disabled child make family planning decisions.
Descriptors: *Congenital Impairments; Decision Making; *Disabilities; *Family Planning; *Genetics; *High Risk Persons; Medical Services; *Parent Attitudes; Personal Narratives
Identifiers: *Genetic Counseling

Angelman Syndrome

AUTH Rider, Robert A. & Modell, Scott
TITL Aquatics for Children with Angelman Syndrome: Earning Your Water Wings.
JNL Palaestra; v12 n4 p28-33 Fall 1996
PTYP 055; 080
DESC Developmental Disabilities; Elementary Secondary Education; Adapted Physical Education; Student Needs; Aquatic Sports; Swimming; Symptoms (Individual Disorders); Educational Objectives; Interpersonal Competence
IDEN Angelman Syndrome
ABST This paper provides guidelines for adapted aquatic activities for children with Angelman Syndrome, a developmental disability. Characteristics of the syndrome are discussed, and sample goals for such students are provided, including an exploration of unique benefits provided by aquatics. Specific physical activities are discussed, as are breathing, relaxation, and social skills activities.

EJ496206 EC610081
Angelman Syndrome: Genetic Mechanisms and Relationship to Prader-Willi Syndrome.
Smith, Arabella
Australia and New Zealand Journal of Developmental Disabilities, v19 n4 p259-68 1994
ISSN: 0726-3864
Language: English
Journal Announcement: CIJMAY95
Research points to two distinct regions within the Prader-Willi chromosome region: one for Prader-Willi syndrome and one for Angelman syndrome. Genetic mechanisms in Angelman syndrome are complex, and at present, three mechanisms are recognized: maternal deletion, paternal uniparental disomy, and a nondeleted nondisomic form.
Descriptors: Congenital Impairments; Cytology; *Developmental Disabilities; *Disability Identification; *Genetics; Heredity
Identifiers: *Angelman Syndrome; Prader-Willi Syndrome

EJ617899 EC626182
Problem Behaviors Associated with 15q- Angelman Syndrome.
Clarke, David J.; Marston, Geoff
American Journal on Mental Retardation; v105 n1 p25-31 Jan 2000
ISSN: ISSN-0895-8017
Language: English
Document Type: JOURNAL ARTICLES (080); REPORTS (143)
Journal Announcement: CIJJUN2001
Seventy-three caregivers of persons with Angelman syndrome completed the Aberrant Behavior checklist and Reiss Screen for Maladaptive Behavior. Responses indicate that 15q- Angelman syndrome is associated with problems such as lack of speech, over activity, restlessness, and eating and sleeping problems. Inappropriate laughter was only reported for 57 percent.
Descriptors: Adults; *Behavior Problems; Children; Eating Disorders; *Hyperactivity; *Individual Characteristics; *Mental Retardation; Sleep; *Speech Impairments; *Symptoms (Individual Disorders
Identifiers: *Angelman Syndrome

EJ616406 EC626162
Distinctive Pattern of Behavioral Functioning in Angelman Syndrome.
Summers, Jane A.; Feldman, Maurice A.
American Journal on Mental Retardation; v104 n4 p376-84 Jul 1999
ISSN: ISSN-0895-8017
Language: English
Document Type: JOURNAL ARTICLES (080); REPORTS (143)
Journal Announcement: CIJMAY2001
A study compared 27 participants with Angelman syndrome to clinical and community participants (n=948) with developmental disabilities of mixed etiology to determine whether Angelman syndrome is associated with a distinctive patterns of behavioral functioning. Those with Angelman syndrome had significantly lower scores on measures of irritability and lethargy.
Descriptors: Adults; Behavior Problems; Children; Coping; *Developmental Disabilities; *Emotional Problems; Individual Characteristics; *Personality Traits; *Stress Management; *Symptoms (Individual Disorders)

Kabuki Make-Up Syndrome

The name describes the prominent facial characteristics of children with this disorder. The following information is from the National Organization for Rare Diseases (NORD) database regarding Kabuki Make-up Syndrome.


One of the most distinguishing features of Kabuki Make-Up Syndrome is the unusual facial features. The opening between the upper and lower eyelids is abnormally long and one third of the lower eyelid is turned outward. The tip of the nose may be broad and depressed and the ears may be large and malformed. The eyebrows of patients with Kabuki Make-Up Syndrome may be high and arched. The palate of the mouth may be cleft or have a high arch, and the upper and lower teeth may not meet properly (malocclusion).

These unusual facial features resemble the make-up of actors in a Japanese traditional play called "Kabuki". Many patients with Kabuki Make-Up Syndrome have a sideways curvature of the spine, a short fifth finger that curves inward, and abnormalities of the vertebrae, hands and hip joint. All patients with Kabuki Make-Up Syndrome have mental retardation ranging from mild to severe. Short stature and abnormal skin ridge patterns on the fingers, toes, palms of the hands and soles of the feet are common. Early development of breasts in females and heart defects have been found in a few patients with Kabuki Make-Up Syndrome.


The majority of cases of Kabuki Make-Up Syndrome are thought to occur for no apparent reason (sporadic). Three patients recorded in the medical literature had abnormalities on the Y chromosome leading researchers to believe it may be inherited as an autosomal dominant trait.

Affected Populations

Kabuki Make-Up Syndrome is a very rare disorder that affects males and females in equal numbers. There have been 70 cases reported in the medical literature. The majority of cases have occurred in people of Japanese ancestry. Cases of Kabuki Make-Up Syndrome have also been reported in Canada, Italy, Latin America, Germany, Libya, and the United States.

Therapies: Standard

Patients with Kabuki Make-Up Syndrome may benefit from orthopedic care for prevention of scoliosis. Physical therapy and cosmetic surgery may also be helpful. Physical therapy may benefit in the prevention of scoliosis. Genetic counseling may be of benefit for patients and their families.

EJ621357 EC626605
Speech Patterns in Kabuki Make-Up Syndrome: A Case Report.
Van Lierde, Kristiane M.; Van Borsel, John; Van Cauwenberge, Paul
Journal of Communication Disorders; v33 n6 p447-62 Nov-Dec 2000
ISSN: ISSN-0021-9924
Language: English
Document Type: JOURNAL ARTICLES (080); REPORTS (143)
Journal Announcement: CIJAUG2001
A case study of a Belgian 3-year-old girl with Kabuki make-up syndrome found she had normal receptive skills and good expressive vocabulary but poor morphosyntactic abilities. She was capable of producing most of the sounds of her native language but demonstrated high variability in production of the sounds.
Descriptors: *Articulation Impairments; Case Studies; *Communication Disorders; *Disabilities; Foreign Countries; Incidence; Individual Characteristics; Language Impairments; *Speech Impairments; *Symptoms (Individual Disorders); Young Children
Identifiers: Belgium

Klinefelters's Syndrome

EJ519899 EC613277
The Psychoeducational Profile of Boys with Klinefelter Syndrome.
Rovet, Joanne; And Others
Journal of Learning Disabilities, v29 n2 p180-96 Mar 1996
ISSN: 0022-2194
Language: English
Journal Announcement: CIJJUL96
Target Audience: Researchers
This article integrates the literature on intelligence and achievement outcomes in boys with Klinefelter syndrome (KS). It reports results of a study following 36 boys with KS and 33 sibling controls. Boys with KS demonstrated verbal cognitive deficits and significant underachievement in reading, spelling, and arithmetic, which increased with age.
Descriptors: *Academic Achievement; Age; Arithmetic; *Cognitive Ability; *Congenital Impairments; Genetics; *Intelligence; *Language Impairments; *Learning Disabilities; Males; Profiles; Reading Achievement; Spelling; Symptoms (Individual Disorders); Underachievement; Verbal Ability Identifiers: *Klinefelters Syndrome

EJ377445 CS736623
Developmental Arrest at the Logographic Stage: Impaired Literacy
Functions in Klinefelter's XXXY Syndrome.
Seymour, Philip H. K.; Evans, Henryka M.
Journal of Research in Reading, v11 n2 p133-51 Sep 1988
Special Issue: Cognitive Processes in Reading Disability.
Language: English
Journal Announcement: CIJFEB89
Reports a case study of the reading and spelling processes of a developmentally disabled child indicating that there was almost a complete lack of alphabetic functions, that reading appeared to be based on a "logographic lexicon," and that spelling was based on a letter sequence generator.
Descriptors: Case Studies; Cognitive Processes; *Developmental Disabilities; Dyslexia; Elementary Education; Phoneme Grapheme Correspondence; Reading Difficulties; Reading Research; Reading Skills; *Sight Vocabulary; *Spelling; *Word Recognition
Identifiers: *Chromosome Abnormalities; Logographs; Spelling Growth; Spelling Research

Lowe's Syndrome

ED290243 EC201704
Living with Lowe's Syndrome. A Guide for Families, Friends, and Professionals.
Lowe's Syndrome Association, Inc., West Lafayette, IN. 1987
24p.; This publication was made possible in part by a grant from the Willen Drug Co., Baltimore, Maryland. Available From: Lowe's Syndrome Association, Inc., 222 Lincoln St., West Lafayette, IN 47906 (single copy free, $0.50 each additional copy).
EDRS Price - MF01/PC01 Plus Postage.
Language: English
Geographic Source: U.S.; Indiana
Journal Announcement: RIEJUN88
Target Audience: Parents; Practitioners
The document describes Lowe's syndrome, a hereditary condition that affects only males and is typically diagnosed during the first year of life. Effects of Lowe's syndrome on the eyes (cataracts, glaucoma, corneal degeneration, and strabismus) are discussed, as well as related problems with the central nervous system, muscles, kidneys, bones, and teeth. Special health concerns arising from these effects include metabolic imbalance, respiratory illness, and constipation. Additional topics addressed in the guide are prognosis, related information on genetics (including females as carriers and genetic counseling), ongoing research efforts, developmental and educational programming, and family dynamics. The booklet concludes with a brief description of Lowe's Syndrome Association, a nonprofit organization of parents and professionals founded in 1983.
Descriptors: *Congenital Impairments; *Developmental Disabilities; Genetics; Heredity; Identification; Intervention; *Males; Neurological Organization; Parent Child Relationship; Visual Impairments
Identifiers: *Lowes Syndrome

For information, contact:
Lowe Syndrome Association, Inc.
222 Lincoln Street
West Lafayette, IN 47906
(317) 743-3634 (Voice)

The Lowe Syndrome Association, Inc. (LSA) fosters communication among families of boys with this genetic disease. LSA provides information on the syndrome and supports research. It also sponsors conferences every 2 to 3 years. LSA publishes a booklet about Lowe's Syndrome and the group. A publication list is available. Serial publication: On the Beam (newsletter), three issues per year-news on research, letters and photographs from parents, and articles by professionals in the field.

Other Syndromes

EJ627906 EC627464
Characterization of Self-Injurious Behaviors in Children and Adults with Smith-Magenis Syndrome.
Finucane, Brenda; Dirrigl, Karen Haines; Simon, Elliot W.
American Journal on Mental Retardation; v106 n1 p52-58 Jan 2001
ISSN: ISSN-0895-8017
Language: English
Document Type: JOURNAL ARTICLES (080); REPORTS (143)
Journal Announcement: CIJDEC2001
This study examined the prevalence and severity of self-injurious behavior (SIB) in 29 children and adults with Smith-Magenis syndrome, a genetic disorder usually involving moderate mental retardation. Findings confirmed the near universal presence of SIB in this population. The overall prevalence of SIB increased with age. Number of types of SIB exhibited correlated with age and level of intellectual functioning.
Descriptors: Adults; *Age Differences; Behavior Disorders; Children; *Congenital Impairments; Genetics; *Incidence; *Mental Retardation; *Self Injurious Behavior; Severity (of Disability); Symptoms (Individual Disorders)
Identifiers: *Smith Magenis Syndrome

EJ611265 EC625429
Communication Disorders in the 22Q11.2 Microdeletion Syndrome.
Solot, Cynthia B.; Knightly, Carol; Handler, Steven D.; Gerdes, Marsha; McDonald-McGinn, Donna M.; Moss, Edward; Wang, Paul; Cohen, Marilyn; Randall, Peter; Larossa, Don; Driscoll, Deborah; Emanuel, Beverly S.; Zackai, Elaine H.
Journal of Communication Disorders; v33 n3 p187-204 May-Jun 2000
ISSN: ISSN-0021-9924
Language: English
Document Type: JOURNAL ARTICLES (080); VIEWPOINTS (120)
Journal Announcement: CIJFEB2001
The 22q11.2 microdeletion syndrome is a genetic disorder in children with many concomitant medical and developmental problems. Communication disorders are among the most common features of this syndrome and include articulation, language, resonance, and voice problems. Awareness of these features and a multidisciplinary approach are necessary for the identification and treatment of the complex problems present in this population.
Descriptors: Clinical Diagnosis; *Communication Disorders; *Congenital Impairments; *Genetics; Intervention; Symptoms (Individual Disorders)

ED458748 EC308694
Manifestations, Treatment Implications and Speech-Language Consideration in Gorlin Syndrome: A Case Study.
Andrews, Alice E.; Stonestreet, Ruth H.
EDRS Price: MF01/PC01 Plus Postage.
Language: English
Geographic Source: U.S.; Georgia
Journal Announcement: RIEAPR2002
This paper presents a case study of Gorlin Syndrome, also known as Basal Cell Nevus Syndrome, a rare genetic disorder characterized by widespread developmental defects. Criteria for diagnosis are listed, noting the presence of frequent basal cell carcinomas at a relatively young age and multiple cysts of the jaw. Speech and/or language impairments may result from malocclusion, possible cleft palate, and frequent surgeries. The case study is of a 19-year-old female college student who already had 10 surgeries for malignant jaw cysts. Results of hearing, speech, and language tests found normal hearing, expressive and receptive language skills within normal limits, and articulation within normal limits. However, the Dworkin-Culatta Oral Mechanism Examination found numerous abnormalities and weaknesses. Recommendations for speech therapy services to strengthen musculature on one side were made. Decreased muscle flaccidity were noted following the intervention.
Descriptors: Case Studies; College Students; Congenital Impairments; Higher Education; Outcomes of Treatment; *Special Health Problems; *Speech Language Pathology; *Speech Therapy

EJ589510 EC622678
Brief Report: Autism and Aarskog Syndrome.
Assumpcao, F.; Santos, R. C. S.; Rosario, M.; Mercadante, M.
Journal of Autism and Developmental Disorders; v29 n2 p179-81 Apr 1999
ISSN: ISSN-0162-3257
Language: English
Document Type: JOURNAL ARTICLES (080); REPORTS (141)
Journal Announcement: CIJFEB2000
This report presents three case reports of male children who meet criteria for autism and also Aarskog syndrome, a genetic disorder characterized by hypertelorism, short nose, long philtrum, short stature, brachydactyly, and shawl scrotum. Two of the children also presented with severe mental retardation.
Descriptors: *Autism; Case Studies; Child Development; Congenital Impairments; *Multiple Disabilities; Severe Mental Retardation; *Special Health Problems

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