Chromosome 10q Duplication Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

10q Partial trisomy, 10q duplication syndrome, 10q+ syndrome

+ [10]

Introduction

Duplication of the long arm of chromosome 10 with cardiac, renal, and respiratory complications, orofacial dysmorphism, and psychomotor retardation which vary with different karyotypes.

100 Clinical Results associated with Chromosome 10q Duplication Syndrome

100 Translational Medicine associated with Chromosome 10q Duplication Syndrome

0 Patents (Medical) associated with Chromosome 10q Duplication Syndrome

Literatures (Medical) associated with Chromosome 10q Duplication Syndrome

22 Jun 2016·Journal of Neonatal-Perinatal Medicine

Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype

Article

Author: Browne, P.C. ; Gregg, A.R. ; Badr, M. ; Mohamed, S. ; Edwards, J. ; Brooks, C.R. ; Adam, S. ; Walker, P.

Partial trisomy of the 10q region was originally reported in 1979 [1]. For 25 years, the diagnosis was made microscopically based on large, visible insertions in the region identified by karyotype analysis. Previous case reports have included both unbalanced translocations and large duplications/insertions in the 10q region [2]. Probands with partial trisomy 10q syndrome often have an abnormal phenotype that may include developmental delay [3-5], craniofacial abnormalities [3, 5], talipes (clubfoot) [2], microcephaly [2-4], or congenital heart disease [2-6]. Prenatal diagnoses by karyotype have been made following ultrasound diagnosis of sacrococcygeal teratoma [7], renal pyelectasis [3, 8-10], and other fetal abnormalities [4]. In this case, we report the first prenatal diagnosis of partial trisomy 10q (10q22.3-10q23.2) with a normal karyotype and an abnormal chromosomal microarray analysis (CMA). This is the smallest copy number variant (CNV) (7.5 Mb) in the 10q22.3-10q23.2 regions yet reported.

01 Apr 2013·Reports of biochemistry & molecular biology

Partial distal 10q trisomy due to de novo amplification: A new case without furrows or ridges in fingers and palms.

Author: Derakhshandeh-Peykar, Pupak ; Barkhordari, Amirhassan ; Ebrahimzadeh-Vesal, Reza ; Rahbarimanesh, Aliakbar ; Shamizadeh Kalkhoran, Soja

BACKGROUNDHere we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations.METHODSAdditional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, and as a first case reported, fingers with camptodactly (i.e., without any furrows or ridges in the palms and fingers).RESULTSCytogenetic analysis (GTG-banding) revealed an unbalanced female karyotype with additional bands at the end of the long arm of chromosome 10, karyotype: 46,XX,dup(10)(q25q26).CONCLUSIONAccording to the banding pattern it is most likely that a duplication of the distal part of the long arm of chromosome 10 occurred.

01 May 2011·European Journal of Paediatric NeurologyQ3 · MEDICINE

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother

Q3 · MEDICINE

Article

Author: Avi Eden ; Esther Leshinsky-Silver ; Marina Michelson ; Uri Kremer ; Dorit Lev ; Tally Lerman-Sagie ; Chana Vinkler

Various rearrangements involve the proximal long arm of chromosome 15, including deletions, duplications, translocations, inversions and supernumerary marker chromosome of an inverted duplication. The large marker 15, that contains the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) chromosome region, is usually associated with an abnormal phenotype of moderate to severe mental retardation, seizures, poor motor coordination, early-onset central hypotonia, autism and autistic-like behavior, schizophrenia and mild dysmorphic features. We report a ten year-old girl with normal intelligence prior to the onset of seizures, who developed severe intractable epilepsy at the age of seven years. Family history was significant for a mother with recurrent episodes of acute psychosis. The patient's and mother's karyotype revealed 47,XX+m. Array comparative genomic hybridization (A-CGH) identified a gain of 13 BAC clones from 15q11.2 through 15q13.1, which was then confirmed by FISH to be part of the marker chromosome. This duplicated region contains the SNRPN/UBE3A locus. This case demonstrates that a duplication of 15q11-13 can present differently in the same family either as intractable epilepsy or as a psychiatric illness and that intelligence can be preserved. We suggest that CGH microarray should be performed in cases with intractable epilepsy or schizophrenia, with or without mental retardation.

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Chromosome 10q Duplication Syndrome

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