De novo trisomy 16p

Journal Article · Sun Jan 19 23:00:00 EST 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970120)68:2<219::AID-AJMG19>3.3.CO;2-A· OSTI ID:518296

Juan, J L.C.; Cigudosa, J C; Gomez, A O ^[1]

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1. Univ. of La Laguna, Tenerife, Canary Islands (Spain); and others

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{r_arrow}p12). 9 refs., 3 figs.

• OSTI ID: 518296
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 68; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
FLUORESCENCE
HEREDITARY DISEASES
HUMAN CHROMOSOME 16
IN-SITU HYBRIDIZATION
KARYOTYPE
MENTAL DISORDERS
PATIENTS
PHENOTYPE