Pure partial trisomy of 6p12.1–p22.1 secondary to a familial 12/6 insertion in two malformed babies-Reference-Cited by-同舟云学术

Pure partial trisomy of 6p12.1–p22.1 secondary to a familial 12/6 insertion in two malformed babies

Published:2007-03 Issue:2 Volume:50 Page:103-111
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Fogu Giuseppina,Bandiera Pasquale,Cambosu Francesca,Carta Anna Rita,Pilo Laura,Serra Gigliola,Soro Giovanna,Tondi Massimo,Tusacciu Gianni,Montella Andrea

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference17 articles.

1. Peculiar facies with short philtrum, duck-bill lips, ptosis, and low-set ears: a new syndrome?;Char;Birth defects Orig. Art. Ser.,1978

2. A 6p trisomy detected in a family with a “giant satellite”;Chiyo;Humangenetik,1975

3. Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection;Delaticky;J. Med. Genet.,1999

4. Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23);Dominguez;Ann. Genet.,2003

5. De novo “pure” partial trisomy (6)(p2.1→pter) in a chromosome 15 with an enlarged satellite, identified by microdissection;Engelen;Am. J. Med. Genet.,2001

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1. Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability;Genes;2023-04-09

2. De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism;Molecular Syndromology;2022-07-06

3. Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring;Clinical Dysmorphology;2017-10

4. Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry;Gene;2014-02

5. Familial trisomy 6p in mother and daughter;American Journal of Medical Genetics Part A;2013-05-17