Case report: Y;6 translocation with deletion of 6p.
Translocations between the Y chromosome and an autosome are rare. We report a phenotypic male with a translocation between the Y chromosome and chromosome 6p, leading to partial 6p monosomy and XX male syndrome. He is the second child to be reported with this karyotype. Phenotypic findings included growth retardation, severe developmental delay, a Dandy-Walker malformation, cardiac and urogenital abnormalities, bilateral hearing loss, cleft palate, severe kyphoscoliosis, minor digital anomalies, and a hypoplastic phallus. Craniofacial dysmorphism consisted of dolichocephaly, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge and a tented upper lip. Cytogenetic analysis showed the karyotype 46,XX,der(6)t(Y;6)(p11.2;p23).ish der(6)(SRY+,6pTEL48-). The effects of partial monosomy 6p are discussed and compared to other patients with interstitial and terminal 6p deletions.
Klein
Ophir D
OD
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA Division of Medical Genetics, Children's Hospital and Research Center, Oakland, CA US Labs, Inc., Irvine, CA Division of Child Neurology, Department of Pediatrics, University of California San Francisco, San Francisco, CA.
Backstrand
Kendall
K
Cotter
Philip D
PD
Marco
Elysa
E
Sherr
Elliott
E
Slavotinek
Anne
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D002972:Cleft Palate / Q000473:pathology; D003616:Dandy-Walker Syndrome / Q000175:diagnosis; D002658:Developmental Disabilities / Q000473:pathology; D003937:Diagnosis, Differential; D019066:Facies; D024282:Genes, sry / Q000235:genetics; D005838:Genotype; D006130:Growth Disorders / Q000473:pathology; D006312:Hearing Loss, Bilateral / Q000473:pathology; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D014481:United States