title: Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.
abstract: We describe a boy with monosomy for the distal part of the short arm of chromosome 3. He had a congenital heart defect, tetramelic hexadactyly, and typical craniofacial anomalies. Comparison with previously reported cases confirms that the phenotype consists of an identifiable pattern of malformation.
authors: Institute of Human Genetics, Saar University, Homburg, Federal Republic of Germany.
authors: H
authors: H
authors: Nienhaus
authors: U
authors: U
authors: Mau
authors: K D
authors: KD
authors: Zang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D005147:Facial Bones / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities