Dataset Information

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.

ABSTRACT: BACKGROUND:Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity. CASE CHARACTERISTICS:A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique. RESULTS:Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father. DISCUSSION:Investigations of the parents is mandatory when a structural rearrangement is detected in a dysmorphic child.

SUBMITTER: Sheth F

PROVIDER: S-EPMC4510909 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.

Sheth Frenny F Liehr Thomas T Shah Krati K Sheth Jayesh J

Molecular cytogenetics 20150722

<h4>Background</h4>Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity.<h4>Case characteristics</h4>A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique.<h4>Results</h4>Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father.<h4>Discu ...[more]

PMID: 26203302

Similar Datasets

Project description:For genetic counseling of male carriers of chromosomal translocations, the specific chromosomes and breakpoints involved in the translocation are relevant to know. The structural chromosomal abnormalities may lead to abnormal sperm counts, infertility, and miscarriage. These are related to the specific chromosomes and breakpoints involved in the translocation. To date, over 200 cases of non-Robertsonian translocation in male carriers have been described that involve chromosomes 13, 14, or 15.This study reports of 28 male carriers from our clinic with balanced reciprocal translocations of chromosome 13, 14, or 15, and a literature review of 201 cases. The 28 male carriers from our clinic were diagnosed by cytogenetic analyses: 19 subjects suffered from pregestational infertility and 9 from gestational infertility. The most common translocations were t(7;13), t(10;14), and t(3;15), observed respectively in 13 (46%), 8 (29%), and 8 (29%) of our subjects. The literature cases (n = 201) involved chromosome 13 (n = 83, 41%), chromosome 14 (n = 56, 28%) or 15 (n = 62, 31%) in which 75 breakpoints were identified, the most common breakpoint, 13q22, was observed in 12 subjects (6%), followed by 14q32 (n = 11), 15q15 (n = 9), and 15q22 (n = 9). Most breakpoints were related to gestational infertility, while breakpoints at 13p13, 13p12, 13p11.2, 13p11, 13q11, 13q15, 14p12, 14p10, 15p13, 15p10, and 15q22.2 were associated with pregestational infertility.Carriers of non-Robertsonian translocations involving chromosome 13, 14, or 15 and experiencing infertility should receive counseling with regard to chromosomal breakpoints as there seem to be consequences for treatment. Intracytoplasmic sperm injection with preimplantation genetic diagnosis (PGD) for the carriers with oligozoospermia, microscopic testicular sperm extraction or sperm from the sperm bank for the carriers with azoospermia should be considered for pregestational infertility. The carriers with gestational infertility can choose PGD or prenatal diagnosis.

Dataset Information

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.

Publications

Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets