Mosaic 5p tetrasomy.
We report on a mildly abnormal 5-year-old girl with seizures, psychomotor retardation, and areas of hyperpigmentation who had a supernumerary marker chromosome in fibroblasts which was identified as an i(5p). To our knowledge, this is the first reported case of tetrasomy 5p. She shares in common some, but not all, manifestations of the dup (5p) syndrome. Cytogenetic analysis of relatives showed that the phenotypically apparently normal mother, maternal grandmother, and a brother of the proband also had a marker chromosome in their lymphocytes which was unrelated to the i(5p).
Stanley
W S
WS
Department of Laboratory Medicine, Children's National Medical Center, Washington, D.C. 20010.
Powell
C M
CM
Devine
G C
GC
Ellingham
T
T
Samango-Sprouse
C A
CA
Vaught
D R
DR
Murphy
B A
BA
Rosenbaum
K N
KN
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000235:genetics; D012640:Seizures / Q000235:genetics
D005819:Genetic Markers