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Mostrando ítems 11-20 de 89
Interstitial 1q42-q44 deletion defined by fish in a short-lived female
(2008)
We report a female newborn with a de novo 1q4 deletion ascertained by G bands but refined as an interstitial one by FISH with a subtelomeric 1q probe; hence, the final karyotype was 46,XX,del(1)(q42q44).ish subtellq x 2. ...
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
(Nature, 2017)
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5–3 Mb on chromosome region 22q11.2. ...
Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1)
(2012)
Cognitive, emotional, and behavioral characterizations have been reported for patients with a few chromosomal imbalances, but not for patients with a 13q deletion. We report the neuropsychological profile and specific ...
Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case-control study.
(2013)
To determine the prevalence of South Amerindian Y chromosome in Chilean patients with spermatogenic failure and their association with classical and/or AZFc-partial Y chromosome deletions. We studied 400 men, 218 with ...
Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome
(Karger, 2015-01-01)
Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the NSD1 gene at ...