Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations.
Santos
M
M
Unitat de Biologia Cel lular i Genètica Mèdica, Facultat de Medicina, Universitat Autònoma de Barcelona, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, Barcelona, Spain.
Mrasek
K
K
Madrigal
I
I
Martorell
M R
MR
González-Meneses
A
A
Rodríguez-Criado
G
G
Milà
M
M
Liehr
T
T
Fuster
C
C
D000293:Adolescent; D001003:Anal Canal / Q000002:abnormalities; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D002988:Cloaca / Q000002:abnormalities; D000013:Congenital Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012007:Rectum / Q000002:abnormalities / Q000473:pathology; D012729:Sex Chromosome Aberrations