Results 161 to 170 of about 8,531 (188)

Inherited Aneuploidy: Germline Mosaicism

Cytogenetic and Genome Research, 2011
Germline mosaicism has been thought to be a rare cause of aneuploidy in the human population. Recent evidence from cytological and population studies suggests otherwise. Approximately 5% of young couples with a Down syndrome child show evidence of germinal mosaicism. Molecular cytogenetic analysis of oocytes has proved germinal or gonadal mosaicism for
openaire   +2 more sources

Familiarity, recessivity and germline mosaicism

Annals of Human Genetics, 1989
SummaryIn man evidence of autosomal recessive disease is usually based on a high sib risk, absence of parent‐child transmission and increased consanguinity. Discrimination from what are sometimes termed multifactorial disorders and their associated environmental effects is usually based on the latter having a lower recurrence risk, an increased ...
openaire   +2 more sources

Germline mosaicism in X‐linked myotubular myopathy

Clinical Genetics, 1999
X‐linked myotubular myopathy (XLMTM; OMIM310400) is a congenital muscle disorder characterized by severe hypotonia and respiratory insufficiency. The disorder was mapped to Xq28 by linkage studies and the MTM1 gene was isolated by positional cloning. The gene product is a 603 amino acid protein named myotubularin.
B G, Häne, R C, Rogers, C E, Schwartz
openaire   +2 more sources

Germline mosaicism and Duchenne muscular dystrophy mutations

Nature, 1987
Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disease with an incidence of approximately 1 in 3,500 newborn boys. The DMD locus has a high mutation frequency: one third of the cases is thought to result from a new mutation. Linkage studies using probes to detect restriction fragment length polymorphisms and DNA deletion studies ...
Bakker, E., Van Broeckhoven, C., Bonten, E.J., Van de Vooren, M.J., Veenema, H., Van Hul, W., van Ommen, G.J.B., Vandenberghe, Antoon, Pearson, P.L.   +8 more
openaire   +3 more sources

NF1 Germline and Somatic Mosaicism

2012
NF1 affects ~1/3,000 individuals, irrespective of gender or ethnic background, and as many as 30–50 % of these patients present as “sporadic” or “founder” patients. A small fraction of these “sporadic” patients present with mosaicism for a “first hit” NF1 mutation.
Ludwine Messiaen, Jing Xie
openaire   +1 more source

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

Biochemical and Biophysical Research Communications, 2006
Severe Myoclonic Epilepsy in Infancy (SMEI) is an intractable epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel. We report two unrelated families in which probands were affected by SMEI and their parents showed a
GENNARO E, SANTORELLI FM, BERTINI E, BUTI D, GAGGERO R, GOBBI G, LINI M, GRANATA T, FRERI E, PARMEGGIANI A, STRIANO, PASQUALE, VEGGIOTTI P, CARDINALI S, BRICARELLI FD, MINETTI, CARLO, ZARA F.   +15 more
openaire   +4 more sources

Germline Mosaicism

2006
Abstract The issue of germline mosaicism has generated a great deal of uncertainty in the provision of genetic risks over the past 10–15 years. Previously, this was not perceived to be a major concern. Rare reports of siblings with conditions such as campomelic dysplasia, severe osteogenesis imperfecta, and pseudoachondroplasia, born to ...
openaire   +1 more source

The developmental basis for germline mosaicism in mouse and Drosophila melanogaster

Genetica, 1998
Data involving germline mosaics in Drosophila melanogaster and mouse are reconciled with developmental observations. Mutations that become fixed in the early embryo before separation of soma from the germline may, by the sampling process of development, continue as part of germline and/or differentiate into any somatic tissue.
J B, Drost, W R, Lee
openaire   +2 more sources

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

Neurology, 2004
To describe the phenotypic spectrum and genetics of periventricular nodular heterotopia (PNH) caused by FLN1 mutations in four men.X-linked PNH caused by FLN1 mutations (MIM #300049) implies prenatal or early postnatal lethality in boys and 50% recurrence risk in daughters of affected women.Clinical examination, cognitive testing, MRI, and mutation ...
GUERRINI, RENZO, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Moro F, Kramer G, Dobyns WB, Parrini E.   +12 more
openaire   +4 more sources

Germline mosaicism in osteopathia striata with cranial sclerosis – recurrence in siblings

Clinical Dysmorphology, 2016
We report recurrence of osteopathia striata with cranial sclerosis (OSCS) in two full siblings conceived by unaffected parents. Molecular confirmation of OSCS in both siblings was achieved by identification of a novel heterozygous mutation in the WTX gene.
OByrne, James J., Phelan, Ethna, Steenackers, Ellen, Van Hul, Wim, Reardon, William   +4 more
openaire   +3 more sources