Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing-Reference-Cited by-同舟云学术

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing

Published:2023-07-28 Issue:9 Volume:40 Page:2233-2240
ISSN:1058-0468
Container-title:Journal of Assisted Reproduction and Genetics
language:en
Short-container-title:J Assist Reprod Genet

Author:

Zhang Fang,Yin Ting,Tang Xinxin,Ma Shanshan,Meng Qian,Song Jiedong,Wang Yongan,Men Shuai,Wang Leilei^ORCID

Funder

Project on Maternal and Child Health Talents of Jiangsu Province

Lianyungang Science and Technology Bureau

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10815-023-02896-8.pdf

Reference32 articles.

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3. Teschler-Nicola M, Killian W. Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident. 1981;7:6–7.

4. Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Berlin, Boston: De Gruyter; 1983.

5. Alqahtani AS, Putoux A, Bonnet Dupeyron MN, Carneiro M, Lion-Francois L, Rossi M, et al. Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): interest of array CGH for diagnosis and review of the literature. Mol Genet Genomic Med. 2019;7(10):e00939.