Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.
We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin upper lip, heart defect, clinodactyly, pes valgus, and skeletal anomalies. There is phenotypic overlap between our case and Mutchinick syndrome. This is the first report of a combined partial monosomy 6p and partial trisomy 12q due to an unbalanced translocation between subtelomeric regions of these chromosomes.
Semerci
C Nur
CN
Department of Medical Biology-Genetics Unit, School of Medicine, Pamukkale University, Denizli, Turkey. nsemerci1@yahoo.com
Cinbis
Mine
M
Ullmann
Reinhard
R
Steininger
Anne
A
Bahce
Muhterem
M
Yagci
Baki
B
Ozden
Serap
S
Sabir
Nuran
N
Gumus
Dilihan
D
Tepeli
Emre
E
Arteaga
Jazmín
J
Mutchinick
Osvaldo M
OM
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D016615:Telomere / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*; D055815:Young Adult