NDLI: A t(5;16)(p15.32;q23.3) generating 16q23.3 --> qter duplication and 5p15.32 --> pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay.

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A t(5;16)(p15.32;q23.3) generating 16q23.3 --> qter duplication and 5p15.32 --> pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay.

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A t(5;16)(p15.32;q23.3) generating 16q23.3 --> qter duplication and 5p15.32 --> pter deletion in two siblings with mental retardation, dysmorphic features, and speech delay.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Hellani, Ali Mohamed, Sarar Al-Akoum, Siham Bosley, Thomas M. Abu-Amero, Khaled K.
Description	Country affiliation: Saudi Arabia Author Affiliation: Hellani A ( The PGD Laboratory, Saad Specialist Hospital, Al-Khobar, Saudi Arabia.)
Abstract	We report on two siblings (half brothers on the paternal side) with a syndrome consisting of delayed development, cardiac anomalies, chest deformity, hip rotation, metatarsus adductus, genital hypoplasia, dysmorphic face, depressed nasal bridge, mental retardation, and speech delay. All metaphases examined showed a normal karyotype in the patients, their father, and both mothers. High-resolution array CGH examination revealed a 16q (6 Mb) duplication dup(16)(16q23.3 --> 16qter) and a 5p (0.97 Mb) terminal deletion del(5)(p15.32 --> pter) in both affected boys but not their healthy siblings or parents. Interphase fluorescence in situ hybridization (FISH) confirmed both the 16q duplicated region and the 5p terminal deletion. Clinical abnormalities in the patients included thin upper lip, clinodactyly, and foot deformity, which were reported previously with duplications in 16q23.3. Pectus excavatum, hip rotation, metatarsus adductus, umbilical hernia, brachycephaly, and esotropia were not reported previously in chromosome 16q duplications but may be features that occur intermittently. The 5p deleted region has been associated previously only with speech delay, which was present in both patients. These patients display certain phenotypic characteristics not reported previously in 16q duplication and confirm 5p terminal deletion as an important chromosome anomaly for speech delay.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
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 16 Chromosomes, Human, Pair 5 Face Abnormalities Intellectual Disability Language Development Disorders Adolescent Child Humans Male Pedigree Siblings Syndrome Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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