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Article

Prenatal diagnosis of double autosomal mosaicism (47,XX,+8/47,XX,+14): phenotype and molecular cytogenetic analysis on different tissues.

Fetal diagnosis and therapy - 1 Jan 2000

Matheson Jolie K B, Matheson Victor A, McCorquodale Maureen, Santolaya-Forgas Joaquin

Abstract excerpt

A female fetus with multiple congenital anomalies was found to have double autosomal mosaicism, 47,XX,+8/ 47,XX,+14 on chromosome analysis via amniocentesis. At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects. Fluorescence in situ hybridization demonstrated a marked discrepancy in...

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PMID: 12566772
DOI: 10.1159/000066380

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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