The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction

Author:

Cheng Dehua,Yuan Shimin,Hu Liang,Yi Duo,Luo Keli,Gong Fei,Lu Changfu,Lu Guangxiu,Lin Ge,Tan Yue-QiuORCID

Funder

National Key Research & Developmental Program of China

National Natural Science Foundation of China

Hunan Provincial Grant for Innovative Province Construction

Research Grant of CITIC-Xiangya

Publisher

Springer Science and Business Media LLC

Subject

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

Reference47 articles.

1. Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet. 1975;8(4):223–43.

2. Maeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N. A cytogenetic survey of 14,835 consecutive liveborns. Jinrui Idengaku Zasshi. 1991;36(1):117–29.

3. Pasinska M, Lazarczyk E, Julga K, Bartnik-Glaska M, Nowakowska B, Haus O. Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2). BMC Med Genet. 2018;11(1):69.

4. Chen JK, Liu P, Hu LQ, Xie Q, Huang QF, Liu HL. A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3). Mol Cytogenet. 2018;11:37.

5. Paththinige CS, Sirisena ND, Kariyawasam U, Ediriweera RC, Kruszka P, Muenke M, et al. A child with multiple congenital anomalies due to partial trisomy 7q22.1 --> qter resulting from a maternally inherited balanced translocation: a case report and review of literature. BMC Med Genet. 2018;11(1):44.

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