De novo trisomy 16p

We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p+ chromosome. Parental chromosomes were normal. The use of f...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 68; no. 2; p. 219
Main Authors Carrasco Juan, J L, Cigudosa, J C, Otero Gómez, A, Acosta Almeida, M T, García Miranda, J L
Format Journal Article
LanguageEnglish
Published United States 20.01.1997
Subjects
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Chromosome Aberrations - diagnosis
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, Pair 16
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Trisomy - diagnosis
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Summary:We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p+ chromosome. Parental chromosomes were normal. The use of fluorescent in situ hybridization (FISH) showed that this extra material derived from chromosome 16. High-resolution G-banding demonstrated a duplicated segment on the 16p arm, confirming our suspicion of a de novo tandem duplication; hence, the cytogenetic diagnosis was given as 46,XY,dir dup(16)(p11.2-->p12).
ISSN:0148-7299
DOI:10.1002/(SICI)1096-8628(19970120)68:2<219::AID-AJMG19>3.0.CO;2-X