Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.

doi:10.1002/pd.1396

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Article

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.

Prenatal diagnosis - 1 Mar 2006

Trimborn Marc, Wegner Rolf-Dieter, Tönnies Holger, Sarioglu Nanette, Albig Matthias, Neitzel Heidemarie

Abstract excerpt

We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence in...

Topics

Abnormalities, Multiple
Adult
Arteries
Chromosome Aberrations
Chromosomes, Human, Pair 16
Face
Female
Fetal Diseases
Humans
Mutation
Ovary
Pregnancy
Prenatal Diagnosis
Thyroid Gland

Source

Open in PubMed

Identifiers

PMID: 16506262
DOI: 10.1002/pd.1396

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