Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism.
Results of repeated peripheral blood chromosome studies were normal in a boy with intrauterine growth retardation, short stature, moderate mental retardation, and multiple minor anomalies. At age 9 years it was recognized that the swirls of pigmentation/depigmentation on his trunk, linear streaks on his limbs, and body asymmetry were suggestive of chromosomal mosaicism. Four skin biopsies were obtained under anesthesia during a dental procedure. All showed mosaicism for a normal cell line, a line with an extra chromosome 7, and a cell line with an extra small ring. In one biopsy, there was a fourth cell line with an extra chromosome 7 and the ring. Fluorescence in situ hybridization (FISH) with a chromosome 7 paint confirmed trisomy 7 and the chromosome 7 derivation of the ring. This young man's intra-uterine and postnatal growth retardation is an aneuploidy effect, whereas his asymmetry reflects a mosaicism effect that should have aroused suspicion of tissue-limited mosaicism before the development of obvious Blaschkolinear skin pigmentary dysplasia.
Magenis
E
E
Department of Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health Sciences University, Portland, Oregon 97201-2998, USA.
Webb
M J
MJ
Spears
B
B
Opitz
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002871:Chromosome Banding; D002897:Chromosomes, Human, Pair 7; D002658:Developmental Disabilities / Q000235:genetics*; D003937:Diagnosis, Differential; D006128:Growth / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009123:Muscle Hypotonia / Q000151:congenital; D010859:Pigmentation Disorders / Q000235:genetics*; D013577:Syndrome; D014314:Trisomy