Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p.
Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.
Leichtman
L G
LG
Department of Pediatrics, Eastern Virginia Medical School, Norfolk 23507-1971, USA.
Zackowski
J L
JL
Storto
P D
PD
Newlin
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006257:Head / Q000002:abnormalities / Q000473:pathology; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D018404:Isochromosomes; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy