Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
نویسندگان
چکیده
منابع مشابه
Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.
We identified a novel 6.33 Mb deletion of 1q21.3q23.3 (hg18; chr1: 153035245-159367106) in two siblings presenting with blepharophimosis, ptosis, microbrachycephaly, severe psychomotor, and intellectual disability. Additional common features include small corpus callosum, normal birth length and head circumference, postnatal growth restriction, low anterior hairline, upturned nose, bilateral pr...
متن کاملA familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/deletion 5p infant
We report a complex rea(3;5;9) observed in an unbalanced child who inherited this mutation from his mother and maternal grandfather. The propositus, a male infant, was the only child of healthy non-consanguineous parents aged 28 (father) and 24 years. There was no history of miscarriages or malformations on either side of the family. The pregnancy and vaginal delivery were normal. The infant’s ...
متن کاملDuplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1).
A moderately mentally retarded 3 year old boy showed minor anomalies including a prominent forehead and flat occiput, exophthalmos, large and prominent ears, high arched palate, umbilical hernia, sacral dimple, and irregular position of the toes. Cardiac sonography disclosed a chorda running through the left ventricle. Cytogenetic investigation of the family showed a balanced insertional transl...
متن کاملPhenotypic Variability of a Terminal 7q Deletion/8q Duplication in Korean Siblings
Yoojin Kwun, M.D., Eul-Ju Seo, M.D., Han-Wook Yoo, M.D., Byong Sop Lee, M.D., Ki-Soo Kim, M.D., and Ellen Ai-Rhan Kim, M.D. Department of Pediatrics, Division of Neonatology, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine; Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine; Medical Genetics Center, Asan Medical Cente...
متن کاملa synchronic and diachronic approach to the change route of address terms in the two recent centuries of persian language
terms of address as an important linguistics items provide valuable information about the interlocutors, their relationship and their circumstances. this study was done to investigate the change route of persian address terms in the two recent centuries including three historical periods of qajar, pahlavi and after the islamic revolution. data were extracted from a corpus consisting 24 novels w...
15 صفحه اولذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2018
ISSN: 1755-8166
DOI: 10.1186/s13039-018-0371-7