Molecular and phenotypic characterization of ring chromosome 22

We performed a phenotype study of 35 individuals (19 males, 16 females) with ring chromosome 22 or r(22) with a mean age of 10 years. In common with other studies, a phenotype of moderate‐to‐profound learning difficulties and delay or absence of speech affected all individuals with the exception of...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2005-08, Vol.137A (2), p.139-147
Main Authors: Jeffries, Aaron R, Curran, Sarah, Elmslie, Frances, Sharma, Ajay, Wenger, Sharon, Hummel, Marybeth, Powell, John
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adolescent
Adult
autism
Autistic Disorder - pathology
Carrier Proteins - genetics
Chi-Square Distribution
Child
Child, Preschool
Chromosomes, Human, Pair 22 - genetics
del (q13)
Developmental Disabilities - pathology
dysmorphology
Family Health
Female
Genetic Predisposition to Disease - genetics
human development
Humans
Infant
Male
Microsatellite Repeats
molecular genetic characterization
Nerve Tissue Proteins
Phenotype
ring chromosome 22
Ring Chromosomes
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Summary:We performed a phenotype study of 35 individuals (19 males, 16 females) with ring chromosome 22 or r(22) with a mean age of 10 years. In common with other studies, a phenotype of moderate‐to‐profound learning difficulties and delay or absence of speech affected all individuals with the exception of the case with the smallest deletion. Autistic traits were significantly associated with r(22), as shown by an autism screening questionnaire. Mild and variable dysmorphic features, predominantly craniofacial and distal limb, were observed. Internal organ involvement was uncommon. Even though ring chromosomes are reportedly associated with growth abnormalities, only 2 out of 24 individuals showed evidence of growth failure, while 2 showed accelerated growth. Chromosome 22 long arm deletions, as determined by hemizygosity for informative microsatellite markers, varied from
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30780