Familial campomelic dysplasia due to maternal germinal mosaicism

2018 ◽  
Vol 58 (6) ◽  
pp. 194-197 ◽  
Author(s):  
Daisuke Higeta ◽  
Rie Yamaguchi ◽  
Takeshi Takagi ◽  
Gen Nishimura ◽  
Kiyoko Sameshima ◽  
...  
Keyword(s):  
Campomelic Dysplasia ◽  
Germinal Mosaicism

scholarly journals A Review of campomelic dysplasia syndrome

2021 ◽  
Vol 1943 (1) ◽  
pp. 012094
Author(s):  
N Larasati ◽  
P K Zahra ◽  
E I Auerkari
Keyword(s):  
Campomelic Dysplasia

Orthopaedic Manifestations of Campomelic Dysplasia

2002 ◽  
Vol 401 ◽  
pp. 65-74 ◽  
Author(s):  
Khalid Khoshhal ◽  
R. Mervyn Letts
Keyword(s):  
Campomelic Dysplasia

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

2008 ◽  
Vol 43 (5) ◽  
pp. 247-249 ◽  
Author(s):  
Maria Antonietta Melis ◽  
Milena Cau ◽  
Rita Congiu ◽  
Rosalha Puddu ◽  
Francesco Muntoni ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Counselling ◽  
Germinal Mosaicism

scholarly journals Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

1992 ◽  
Vol 29 (4) ◽  
pp. 251-252 ◽  
Author(s):  
I D Young ◽  
J M Zuccollo ◽  
E L Maltby ◽  
N J Broderick
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Campomelic Dysplasia

scholarly journals Next Generation Sequencing Detects Premeiotic Errors in Human Oocytes

2022 ◽  
Vol 23 (2) ◽  
pp. 665
Author(s):  
Harita Ghevaria ◽  
Sioban SenGupta ◽  
Roy Naja ◽  
Rabi Odia ◽  
Holly Exeter ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Polar Body ◽  
Independent Study ◽  
Comparative Genomic ◽  
Next Generation ◽  
Consistent Finding ◽  
Autosomal Aneuploidy ◽  
First Polar Body ◽  
Germinal Mosaicism ◽  
Generation Sequencing

Autosomal aneuploidy is the leading cause of embryonic and foetal death in humans. This arises mainly from errors in meiosis I or II of oogenesis. A largely ignored source of error stems from germinal mosaicism, which leads to premeiotic aneuploidy. Molecular cytogenetic studies employing metaphase fluorescence in situ hybridization and comparative genomic hybridisation suggest that premeiotic aneuploidy may affect 10–20% of oocytes overall. Such studies have been criticised on technical grounds. We report here an independent study carried out on unmanipulated oocytes that have been analysed using next generation sequencing (NGS). This study confirms that the incidence of premeiotic aneuploidy in an unselected series of oocytes exceeds 10%. A total of 140 oocytes donated by 42 women gave conclusive results; of these, 124 (88.5%) were euploid. Sixteen out of 140 (11.4%) provided evidence of premeiotic aneuploidy. Of the 140, 112 oocytes were immature (germinal vesicle or metaphase I), of which 10 were aneuploid (8.93%); the remaining 28 were intact metaphase II - first polar body complexes, and six of these were aneuploid (21.4%). Of the 16 aneuploid cells, half contained simple errors (one or two abnormal chromosomes) and half contained complex errors. We conclude that germinal mosaicism leading to premeiotic aneuploidy is a consistent finding affecting at least 10% of unselected oocytes from women undergoing egg collection for a variety of reasons. The importance of premeiotic aneuploidy lies in the fact that, for individual oocytes, it greatly increases the risk of an aneuploid mature oocyte irrespective of maternal age. As such, this may account for some cases of aneuploid conceptions in very young women.

scholarly journals MED13L-related intellectual disability due to paternal germinal mosaicism

2021 ◽  
pp. mcs.a006124
Author(s):  
Beata Bessenyei ◽  
Istvan Balogh ◽  
Attila Mokanszki ◽  
Aniko Ujfalusi ◽  
Rolph Pfundt ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Mediator Complex ◽  
Facial Dysmorphism ◽  
Facial Features ◽  
Speech Delay ◽  
Motor Delay ◽  
First Case ◽  
Intragenic Deletion ◽  
Germinal Mosaicism

The MED13L-related intellectual disability or MRFACD syndrome (Mental retardation and distinctive facial features with or without cardiac defects; MIM # 616789) is one of the most common form of syndromic intellectual disability with about a hundred cases reported so far. Affected individuals share overlapping features comprising intellectual disability, hypotonia, motor delay, remarkable speech delay, and a recognizable facial gestalt. De novo disruption of the MED13L gene by deletions, duplications or sequence variants has been identified deleterious. Siblings affected by intragenic deletion transmitted from a mosaic parent have been reported once in the literature. We now present the first case of paternal germinal mosaicism for a missense MED13L variant causing MRFACD syndrome in one of the father's children and be the likely cause of intellectual disability and facial dysmorphism in the other. As part of the Mediator complex, the MED proteins have an essential role in regulating transcription. 32 subunits of the Mediator complex genes have been linked to congenital malformations that are now acknowledged as transcriptomopathies. The MRFACD syndrome has been suggested to represent a recognizable phenotype.

scholarly journals A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

2017 ◽  
Vol 5 (3) ◽  
pp. 261-268 ◽  
Author(s):  
Anna E. von Bohlen ◽  
Johann Böhm ◽  
Ramona Pop ◽  
Diana S. Johnson ◽  
John Tolmie ◽  
...  
Keyword(s):  
Initiation Codon ◽  
Campomelic Dysplasia ◽  
Acampomelic Campomelic Dysplasia

scholarly journals Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation

2018 ◽  
Vol 118 (03) ◽  
pp. 617-620 ◽  
Author(s):  
M. Abelleyro ◽  
V. Marchione ◽  
L. Elhelou ◽  
C. Radic ◽  
L. Rossetti ◽  
...  
Keyword(s):  
Haemophilia A ◽  
Promoter Deletion ◽  
Germinal Mosaicism
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