De novo 10q22 interstitial deletion

We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the a...

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Bibliographic Details
Published in:Journal of medical genetics 1999-01, Vol.36 (1), p.71-72
Main Authors: Cook, Lola, Weaver, David D, Hartsfield, James K, Vance, Gail H
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Alveolar Process - abnormalities
Biological and medical sciences
chromosome 10
Chromosome Banding
Chromosome Deletion
Chromosomes
Chromosomes, Human, Pair 10
Complex syndromes
Cysts
Cysts - pathology
deletion 10q
Developmental Disabilities - genetics
Growth Disorders - genetics
Humans
In Situ Hybridization, Fluorescence
Infant
interstitial deletion
Karyotyping
Male
Medical genetics
Medical sciences
multiple congenital anomaly (MCA) syndrome
Short Report
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Description
Summary:We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the first reported case of an interstitial deletion of 10q22.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.36.1.71