Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies.
A 17-year-old male was referred for evaluation because of short stature and severe mental retardation. Major clinical findings included microphthalmia, micrognathia, low-set ears, a prominent beaked nose, clubbing of digits, and premature graying of hair. Cytogenetic analysis revealed a 45,XY,-1/46,XY/47,XY,+1 mosaicism in lymphocytic culture, a 45,XY,-1/46,XY mosaicism in skin fibroblasts, and fra(1p) sites in 2% of the metaphases from lymphocyte, fibroblast and bone marrow cultures. Post-zygotic non-disjunction causing this mosaicism is believed to be responsible for the patient's phenotype.
Neu
R L
RL
Department of Pediatrics, University of South Florida, College of Medicine, Tampa.
Kousseff
B G
BG
Madan
S
S
Essig
Y P
YP
Miller
K
K
Tedesco
T A
TA
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002872:Chromosome Deletion; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010641:Phenotype; D014314:Trisomy