Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Mundhofir, Farmaditya Ep; Smeets, Dominique; Nillesen, Willy M.; Winarni, Tri Indah; Leeuw, Nicole de; Hamel, B.C.J.; Faradz, Sultana Mh; Bon, Bregje W.M. van

doi:10.1016/j.gene.2012.09.018

Cited by 4 publications

(3 citation statements)

References 17 publications

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“…The clinical details have been reported elsewhere. [ 18 ] In case 6, a de novo deletion of the X/Yqter pseudo autosomal region 2 was detected, which was previously also described in phenotypically normal individuals (DGV; ). Therefore, we performed an additional SNP array analysis to enable a fairly precise determination of the size of the deletion and link it to the severity of the clinical features.…”

Section: Resultsmentioning

confidence: 60%

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

Mundhofir¹,

Nillesen²,

Bon³

et al. 2013

Indian J Hum Genet

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CONTEXT:Unbalanced subtelomeric chromosomal rearrangements are often associated with intellectual disability (ID) and malformation syndromes. The prevalence of such rearrangements has been reported to be 5-9% in ID populations.AIMS:To study the prevalence of subtelomeric rearrangements in the Indonesian ID population.MATERIALS AND METHODS:We tested 436 subjects with unexplained ID using multiplex ligation dependent probe amplification (MLPA) using the specific designed sets of probes to detect human subtelomeric chromosomal imbalances (SALSA P070 and P036D). If necessary, abnormal findings were confirmed by other MLPA probe kits, fluorescent in situ hybridization or Single Nucleotide Polymorphism array.RESULTS:A subtelomeric aberration was identified in 3.7% of patients (16/436). Details on subtelomeric aberrations and confirmation analyses are discussed.CONCLUSION:This is the first study describing the presence of subtelomeric rearrangements in individuals with ID in Indonesia. Furthermore, it shows that also in Indonesia such abnormalities are a prime cause of ID and that in developing countries with limited diagnostic services such as Indonesia, it is important and feasible to uncover the genetic etiology in a significant number of cases with ID.

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Section: Resultsmentioning

confidence: 60%

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

Mundhofir¹,

Nillesen²,

Bon³

et al. 2013

Indian J Hum Genet

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“…A 9q34 duplication syndrome (9q34 DS) has been reported [10], involving both interstitial [11][12][13][14] and terminal [1,10,[15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] duplications, with different sizes. The associated manifestations include initial poor feeding and thriving, hypotonia, DD, mostly affecting speech and language, ID, craniofacial dysmorphisms and other musculoskeletal anomalies.…”

Section: Introductionmentioning

confidence: 99%

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

et al. 2019

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Both copy number losses and gains occur within subtelomeric 9q34 region without common breakpoints. The microdeletions cause Kleefstra syndrome (KS), whose responsible gene is EHMT1. A 9q34 duplication syndrome (9q34 DS) had been reported in literature, but it has never been characterized by a detailed molecular analysis of the gene content and endpoints. To the best of our knowledge, we report on the first patient carrying the smallest 9q34.3 duplication containing EHMT1 as the only relevant gene. We compared him to 21 reported patients described here as carrying 9q34.3 duplications encompassing the entire gene and extending within ~3 Mb. By surveying

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“…Until now, there were almost 50 cases reported in DECIPHER (Database of Chromosomal Imbalance and Phenotype in Human using Ensembl Resources), which overlapped with the 9qter region we have found. A 3.0–3.4 Mb region (9q34.11-34.13) was proposed to be critical for the presentation of several phenotypes associated with 9q34 duplications [ 9 , 10 ]. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al…”

Section: Discussionmentioning

confidence: 99%

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

Liu

et al. 2016

Mol Cytogenet

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BackgroundPartial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with 9qter duplications.Case presentationA 23-year-old woman was referred for genetic counseling and prenatal diagnosis at 253/7 weeks of gestation due to her male fetus, diagnosed as Tetralogy of Fallot Syndrome (TOF) by prenatal ultrasound. SNP (Single nucleotide polymorphism) array revealed that the male fetus had a de novo 5.47 Mb duplication at 9q34.13-qter. Meanwhile, non-invasive prenatal testing (NIPT) using low coverage whole genome massively parallel sequencing of circulating cell-free fetal DNA (cffDNA) showed consistent results. Multiplex ligation-dependent probe amplification (MLPA) also confirmed the duplication at 9qter.ConclusionIn this paper, we present an Asian fetus with TOF caused by a de novo 5.47 Mb duplication at 9q34.13-qter. Duplication of 9q34.13-qter should be considered as an etiological diagnosis in the case of TOF. Our prenatal diagnostic findings provide important information for genetic counseling on the male fetus and future pregnancies in this family. Chromosomal microarray analysis (CMA) remains the first-tier clinical diagnostic test for prenatal fetus with suspicious syndromes. We also highlight the high potential application of NIPT in the screening of sub-chromosomal rearrangement.

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Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion

Cited by 4 publications

References 17 publications

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

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