Trisomy 1q42-qter Associated with Monosomy 6q27-qter: A Case Report

Abstract

Purpose

Partial trisomy 1q42-qter is a rare chromosomal aberration. Most cases arise from de novo unbalanced translocations or from unbalanced inheritance of parental balanced rearrangements.

Methods

Descriptive case report.

Results

A 4-year-old boy had shown an increased neck translucency at the fetal ultrasound examination performed at the 11th week of gestation. Amniocentesis, performed at the 18th week of gestation, did not demonstrate any genetic abnormality. A second fetal ultrasound examination, carried out at the 35th week of gestation, showed congenital clubfeet and hydrocephalus. At birth, clinical examination revealed congenital bilateral ventriculomegaly bilateral congenital equinovarus clubfeet, low-set ears, plagiocephaly micrognathia, hypertelorism, prominent forehead, broad nasal bridge, hypertonic syndrome, and inguinal hernia. Ophthalmologic consultation showed the presence of optic pit in his left eye. Genetic counseling was performed. Chromosome analysis demonstrated a partial trisomy 1 q42.2-qter associated with a partial monosomy 6q27-qter. Moreover, deletions of the distal region on the long arm of chromosome 6 are frequently associated with both ocular abnormalities and several solid tumor types. Moderate mental and psychomotor retardation has occurred.

Conclusions

This case emphasizes the importance of scheduling a screening test for eye diseases and tumor in these patients.

Keywords

Monosomy 6q27-qter Prenatal diagnosis failure Retinal abnormalities Trisomy 1q42-qter Unbalanced translocation

Get full access to this article

View all access options for this article.

References

Chia

N.L.

, Bousfield

L.R.

, Poon

C.C.

, Trudinger

B.J.

Trisomy (1q) (q42-qter): confirmation of a syndrome. Clin Genet 1988; 34: 224–9.

Schinzel

Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1; 3) (q32; p25). J Med Genet 1981; 18: 64–8.

Gfatter

, Braun

, Schnedl

The common features of patients with partial trisomy of the long arm of chromosome 1. Clin Genet 1998; 54: 161–3.

Coccé

M.C.

, Villa

, Obregon

M.G.

Duplication dup(1) (q41q44) defined by fluorescence in situ hybridization: de-lineation of the ‘trisomy 1q42->qter syndrome.’

Cytogenet Genome Res 2007; 118: 84–6.

Bertini

, De Vito

, Costa

, Simi

, Valetto

Clinical report isolated 6q terminal deletions: an emerging new syndrome. Am J Med Genet 2006; 140: 74–81.

Hopkin

R.J.

, Schorry

, Bofinger

New insights into the phenotypes of 6q deletions. Am J Med Genet 1997; 70: 377–86.

Bignone

P.A.

, Lee

K.Y.

, Liu

RPS6KA2, a putative tumour suppressor gene at 6q27 in sporadic epithelial ovarian cancer. Oncogene 2007; 26: 683–700.

Liu

, Dodds

, Emilion

The human homologue of unc-93 maps to chromosome 6q27: characterisation and analysis in sporadic epithelial ovarian cancer. BMC Genet 2002; 3: 20.

Acquati

, Morelli

, Cinquetti

Cloning and characterization of a senescence inducing and class II tumor suppressor gene in ovarian carcinoma at chromosome region 6q27. Oncogene 2001; 20: 980–8.

10.

Clark

B.J.

, Lowther

G.W.

, Lee

W.R.

Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter. J Pediatr Ophthalmol Strabismus 1994; 31: 41–5.

11.

Zhang

H.Z.

, Li

, Wang

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6. Am J Med Genet 2004; 124: 280–7.

12.

Percesepe

, Lugli

, Pierluigi

Pure segmental trisomy 1q42-qter in a boy with a severe phenotype. Am J Med Genet A 2007; 143A: 2339–42.

13.

Aller

, Najera

, Millan

J.M.

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet 2004; 12: 407–10.

14.

Abu-Amero

K.K.

, Hellani

, Salih

M.A.

Ophthalmologic abnormalities in a de novo terminal 6q deletion. Ophthalmic Genet 2010; 31: 1–11.

15.

Rocha

S.F.

, Lopes

S.S.

, Gossler

, Henrique

DII1 and DII4 function sequentially in the retina and pV2 domain of the spinal cord to regulate neurogenesis and create cell diversity. Dev Biol 2009; 328: 54–65.

16.

Reid

, Sepulveda

, Kyle

P.M.

, Davies

Amniotic fluid culture failure: clinical significance and association with aneuploidy. Obstet Gynecol 1996; 87: 588–92.

17.

Volpi

E.V.

, Bridger

J.M.

FISH glossary: an overview of the fluorescence in situ hybridization technique. Biotechniques 2008; 45: 385–6, 388, 390.

18.

Ward

B.E.

, Gersen

S.L.

, Carelli

M.P.

Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Am J Hum Genet 1993; 52: 854–65.