AI Article Synopsis

  • Two brothers with mental retardation and physical abnormalities (dysmorphic features) were found to have an extra chromosome on the 13th chromosome pair (13p+).
  • Their father and another sibling also had the 13p+ chromosome but did not show any noticeable physical abnormalities, suggesting a potential carrier status.
  • The text explores the connection between these chromosomal abnormalities and the specific physical traits observed in the affected brothers.

Article Abstract

Chromosomal studies of two brothers with mental retardation and dysmorphic features showed a 13p+ chromosome. The same 13p+ chromosome was found in the father and the other sib, who were both phenotypically normal. The relationship between the physical abnormalities and the chromosomal findings are discussed.

Download full-text PDF

Source
http://dx.doi.org/10.1007/BF00284441DOI Listing

Publication Analysis

Top Keywords

13p+ chromosome
12
mental retardation
8
retardation dysmorphic
8
dysmorphic features
8
familial 13p+
4
chromosome mental
4
features children
4
children chromosomal
4
chromosomal studies
4
studies brothers
4

Similar Publications

A Highly Complex Hyperdiploid Karyotype in a Patient with MDS: A Case Report and Review of the Literature.

J Assoc Genet Technol

January 2023

Baylor Scott and White Health System, Department of Pathology, Temple, TX, USA.

We present a case study of a 73-year-old female with a history of pancytopenia. The bone marrow core biopsy was suggestive of a myelodysplastic syndrome, unspecified (MDS-U). Chromosomal analysis of the bone marrow revealed an abnormal karyotype including gain of chromosomes 1, 4, 6, 8, 9, 19, and 20 in addition to loss of chromosomes 11, 13, 15, 16, 17, and 22.

View Article and Find Full Text PDF

Study Question: Does ART-based conception influence fetal fraction (FF) estimation and cell-free fetal DNA (cffDNA) testing performance?

Summary Answer: Mode of conception (ART versus natural) does not impact FF estimation or cffDNA test informativity rates.

What Is Known Already: Pregnancies achieved via ART are increasing, and cffDNA testing is displacing traditional prenatal screening methods due to its high sensitivity and specificity and noninvasive nature. However, conflicting data exist on cffDNA testing performance and FF in ART pregnancies compared with natural pregnancies.

View Article and Find Full Text PDF
Article Synopsis
  • - This study analyzes a reciprocal translocation between horse chromosomes Y and 13 in a Friesian stallion experiencing complete meiotic arrest and azoospermia, or lack of sperm production.
  • - Utilizing dual-color fluorescence in situ hybridization, researchers identified the translocation breakpoints, finding one at the multicopy region on ECAY and another at the centromere of ECA13, resulting in two abnormal derivative chromosomes.
  • - A significant reduction in copy number of certain ECAY genes was observed, indicating the translocation may have caused genetic material loss, affecting meiosis and providing insights into the Y chromosome's role in male fertility.
View Article and Find Full Text PDF

Metabolic syndrome (MetS) is one of the most important risk factors for cardiovascular disease. The 11p23.3 chromosomal region plays a potential role in the pathogenesis of MetS.

View Article and Find Full Text PDF

This study aimed to examine the effects of adding growth hormone (GH) into the in vitro maturation (IVM) culture medium of mouse oocytes on pregnancy outcomes. Cumulus-oocyte complexes (COCs) were cultured in a medium with (GH group, 100 ng/mL) or without (Con group) GH. Thereafter, chromosome morphology, spindle morphology, and mitochondrial function were examined.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!