Article
Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.
American journal of medical genetics. Part A - 1 Dec 2017
Putra Manesha, Surti Urvashi, Hu Jie, Steele Deana, Clemens Michele, Saller Devereux N, Yatsenko Svetlana A, Rajkovic Aleksandar
Abstract excerpt
Inverted isodicentric chromosome 21 is a rare form of chromosomal rearrangement that may result in trisomy 21; sometimes this rearrangement may also lead to segmental monosomy of the terminal long arm of chromosome 21. In this report, we describe the prenatal diagnosis and neonatal follow-up of a child with a paternally derived, de novo isodicentric chromosome 21 and a concurrent ∼1.2 Mb deletion of the 21q22.3...
Topics
- Abnormalities, Multiple
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 21
- Down Syndrome
- Echocardiography
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Karyotyping
- Monosomy
- Phenotype
- Pregnancy