Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region.

doi:10.1002/ajmg.a.32511

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Article

Familial deletion 11q14.3-q22.1 without apparent phenotypic consequences: a haplosufficient 8.5 Mb region.

American journal of medical genetics. Part A - 15 Oct 2008

Goumy C, Gouas L, Tchirkov A, Roucaute T, Giollant M, Veronèse L, Francannet C, Vago P

Abstract excerpt

We present the prenatal diagnosis of a chromosome 11q14.3-q22.1 deletion identified in three generations without apparent phenotypic consequences. A 25-year-old G2, P1 woman underwent amniocentesis at 15 weeks' gestation because of a positive result for Down syndrome maternal serum-screening test (1/70). The fetal karyotype revealed an interstitial deletion of the long arm of chromosome 11 confirmed by CGH and...

Topics

Amniocentesis
Chromosome Banding
Chromosome Deletion
Chromosome Mapping
Chromosome Painting
Chromosomes, Human, Pair 11
Female
Genetic Counseling
Haploidy
Humans
Infant, Newborn
Karyotyping
Male
Phenotype
Pregnancy

Source

Open in PubMed

Identifiers

PMID: 18798310
DOI: 10.1002/ajmg.a.32511

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