Bloom syndrome for which second chromosomal analysis led to early diagnosis

Pediatr Int. 2022 Jan;64(1):e15020. doi: 10.1111/ped.15020.

Authors

Mai Yoshida¹, Yutaro Tomobe¹, Seiichi Tomotaki¹, Fusako Niwa¹, Masahiko Kawai¹

Affiliation

¹ Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

PMID: 35278254
DOI: 10.1111/ped.15020

No abstract available

Keywords: Bloom syndrome; amniotic fluid; chromosomal abnormality; extremely low birth weight; growth restriction.

MeSH terms

Bloom Syndrome* / diagnosis
Bloom Syndrome* / genetics
Early Diagnosis
Female
Humans
Karyotyping
Pregnancy
Prenatal Diagnosis