Isodicentric Yp: prenatal diagnosis and outcome in 12 cases

Prenatal Diagnosis
H BruyèreM Hrynchak

Abstract

1. To present the prenatal cytogenetic findings and postnatal outcome of 12 cases with an isodicentric chromosome composed of the short arm of the Y chromosome.2. To review the literature and provide recommendations for cytogenetic analysis and counseling. Prenatal and postnatal cytogenetic data and clinical findings of isodicentric Yp ascertained in six institutions were gathered and reviewed. Nine of the twelve cases were referred for advanced maternal age (AMA), one of which was a twin pregnancy with one twin having an increased nuchal translucency measurement. The remaining cases were referred owing to a family history of hemophilia and an abnormal maternal serum screen, respectively. Nine of these pregnancies resulted in the birth of a normal-appearing male infant with subsequent normal growth and psychomotor development. Follow-up ranged from birth to 7 years. In two cases, the pregnancy was terminated and the fetuses showed male external genitalia. In the case ascertained because of an increased nuchal translucency measurement, the prenatal diagnosis of 45,X was made. At birth, there were ambiguous genitalia, and postnatal cytogenetic studies found an isodicentric Yp. In 11 of the 12 cases, mosaicism was present. Our cas...Continue Reading

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Citations

Nov 30, 2013·Journal of Assisted Reproduction and Genetics·Long-Ching KuanTsung-Cheng Kuo
Mar 18, 2017·Human Genetics·Beniamino Trombetta, Fulvio Cruciani
Mar 16, 2006·Analytical and Bioanalytical Chemistry·Anna SurribasSantiago Maspoch
Jun 24, 2009·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·James PascualJordan E Pinsker
Jan 1, 2020·Molecular Cytogenetics·Yang Yang, Wang Hao
Dec 7, 2008·Reproductive Medicine and Biology·Hiroshi TomomasaHiroshi Okada
Oct 23, 2020·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Yasuhiro KawabeJun Mori

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