Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.
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.
Nienhaus
H
H
Institute of Human Genetics, Saar University, Homburg, Federal Republic of Germany.
Mau
U
U
Zang
K D
KD
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