A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

Abstract

BackgroundParental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations.Case presentationThe proband was born pre-term to a 34-year-old mother with a history of two first trimester miscarriages and an early infant death. She was referred at the age of 8 months for genetic evaluation due to prenatal and postnatal growth retardation, developmental delay and multiple congenital anomalies. On clinical evaluation, she had craniofacial dysmorphic features such as scaphocephaly, large anterior fontanelle with open posterior fontanelle, prominent occiput, triangular face, high forehead, hypertelorism, down slanting eyes, flat nasal bridge, small nose, low set ears, micro-retrognathia, high arched palate and short neck. Cranial computerized tomography scan showed lateral ventriculomegaly with features of early cerebral atrophy. Conventional cytogenetic analysis showed the karyotype 46,XX,der(14)t(7;14)(q22;q32)mat in the proband due to an unbalanced segregation of a maternal balanced translocation t(7;14)(q22;q32). Fluorescence in-situ hybridization analysis confirmed the partial trisomy 7q22 → qter in the proband with a minimal loss of genetic material on chromosome 14. Single nucleotide polymorphism array further confirmed the duplication on chromosome 7q22.1 → qter and a small terminal deletion on chromosome 14q32.3 → qter.ConclusionWe report the longest-surviving child with trisomy 7q22 → qter due to a parental balanced translocation between chromosomes 7 and 14. Clinical features observed in the proband were consistent with the consensus phenotype of partial trisomy 7q22 → qter reported in the scientific literature. Early diagnosis of these patients using molecular cytogenetic techniques is important for establishing the precise diagnosis and for making decisions pertaining to the prognostication and management of affected individuals.Electronic supplementary materialThe online version of this article (10.1186/s12920-018-0366-6) contains supplementary material, which is available to authorized users.

Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved

“…Paththinige et al reported on a female child trisomic for 7q22.-qter and minimal loss of genetic material on chromosome 14. 13 Intrauterine growth retardation, DD, and ventriculomegaly were the main signs with craniofacial features presenting with asymmetric skull, triangular face shape, high forehead, hypertelorism, flat nasal bridge, micrognathia, and low-set malformed ears. 16 The authors agreed with the results of the literature that in this case, no clear correlation genotype–phenotype was found.…”

“…Table 2 Clinical data of the six reported cases (8,(11)(12)(13)(14)(15) plus the present case with pure interstitial 7q duplication…”

Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project

“…Accurate molecular diagnosis is key to effective prevention and treatment and provides a desirable effect to patients and their families. It is also beneficial for evaluating prognoses, testing new therapies, and conducting family counseling (Aleksiuniene et al, 2018; Lyimo et al, 2018; Paththinige et al, 2018; Riggs et al, 2014; Suleiman et al, 2018).…”

A Child with Partial Trisomy 4 (q26 – qterminal) Resulting from Paternally Inherited Translocation (4:18) Associated with Multiple Congenital Anomalies and Death

“…Balanced translocation results in a combination of partial trisomy and/or partial monosomy in the zygote. [1] Few reports have highlighted the occurrence of partial trisomy of chromosome 4 and associated phenotypical characteristics. de novo translocation t(4;7)(q27;q22) in a girl aged 13 years was previously reported to have severe mental retardation, growth retardation, and hearing impairment, along with minor foot, thumb, and facial abnormalities.…”