Language Impairment Resulting from a de novo Deletion of 7q32.1q33

Jiménez-Romero, Ma Salud; Barcos-Martínez, Montserrat; Espejo-Portero, Isabel; Benítez‐Burraco, Antonio

doi:10.1159/000448208

Cited by 2 publications

(1 citation statement)

References 24 publications

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“…Several genes implicated in the development and function of specific brain areas, including areas responsible for language processing and intellectual development, have been identified on the long arm of chromosome 7 [9][10][11][12][13][14]. There have been only few reports to date of deletions of the distal region of chromosome 7 and they involved isolated cases of de novo mutation in the region spanning 7q32 and 7q33-36 [9][10][11][12][13][14]. The 7q32 locus is known to be an autism susceptibility locus, containing both imprinted and non-imprinted genes, such as UBE2H, CPA4/5, MEST, COPG2, KLF14, MKLN1 and PODXL.…”

Section: Discussionmentioning

confidence: 99%

A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations

Chalas

Receveur

Frydman

et al. 2020

Basic Clin. Androl.

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Background Germline mosaicism is considered to be a rare event. However, its occurrence is underestimated due to the limited availability of germ cells. The genomic variations that underlie this phenomenon comprise single nucleotide polymorphism (SNPs), copy number variations (CNVs) and aneuploidies. In the case of CNVs, deletions are more frequent in the paternal germline while duplications are more commonly maternal in origin. Germline mosaicism increases with paternal age as the risk of SNPs increase with the number of germ cell divisions. We here report a case of germline mosaicism in the spermatozoa of a donor that resulted in one pathological pregnancy. Results Straws from the same sperm donor were provided to seven recipient couples, resulting in four pregnancies. Second trimester ultrasound analysis revealed bilateral talipes equinovarus associated with growth retardation in one of these pregnancies. Array-comparative genomic hybridization (CGH) carried out after amniocentesis revealed a 4 Mb deletion in the 7q32.1q33 region. The blood karyotypes and array-CGHs were normal in the mother, as well as in the donor. However, the microsatellite profile indicated a paternal origin. Fluorescent in situ hybridization (FISH) analysis of the donor’s spermatozoa revealed the same chromosomal rearrangements in 12% of the spermatozoa population. Due to the documented risk of mental retardation associated with genomic rearrangements in the same region, the couple decided to terminate the pregnancy. Amniocentesis was performed in the other couples, which yielded normal FISH analysis results. Conclusions Several cases of germline mosaicism have been reported to date, but their frequency is probably underestimated. Moreover, it is important to note that germline mosaicism cannot be ruled out by conventional cytogenetic screening of blood cells. This case highlights the need for close follow-up of every pregnancy obtained through gamete donation, given that the occurrence of germline mosaicism may have major consequences when multiple pregnancies are obtained concomitantly.

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