NDLI: Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?

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Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?

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Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Niemi, Anna-Kaisa Kwan, Andrea Hudgins, Louanne Cherry, Athena M. Manning, Melanie A.
Description	Country affiliation: United States Author Affiliation: Niemi AK ( Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305, USA. annakaisa.niemi@gmail.com)
Abstract	To date, an interstitial deletion of 9p13 has been described only two times in the medical literature. These reports were based on routine chromosomal analysis. We report on two additional patients with an interstitial deletion of 9p13 further defined on array CGH who share clinical features with the other two patients previously described. Our first patient is a 16-year-old girl with a 5.9 Mb deletion at 9p13.3-9p13.1, initially detected on routine karyotype analysis and further characterized on array CGH. Our second patient is a 7½-year-old boy with a 4.8 Mb deletion also at 9p13.3-9p13.1. Patients with 9p13 deletion appear to have mild to moderate developmental delay, social and interactive personality, behavior issues such as attention deficit-hyperactivity disorder, short stature, prominent antihelices, hypoplastic nails, and precocious/early puberty. Our 16-year-old patient is the oldest patient described thus far. This report further characterizes this condition and helps to delineate the long-term prognosis in these patients.
File Format	HTM / HTML
ISSN	15524825
Issue Number	9
Volume Number	158A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Chromosome Deletion Chromosomes, Human, Pair 9 Female Humans Infant, Newborn Male Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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