Prenatal diagnosis a case of microdeletion at chromosome 15(q13.2-13.3)

Prenatal diagnosis a case of deletion of chromosome 15 (q13.2-13.3)


Fetus 25 weeks with deletion of chromosome 15 (q13.2-13.3),
bilateral club foot, enlarge gallbladder, single umbilical artery,
Chẩn đoán trước sinh thai nhi có mất đoạn nhiễm sắc thể 15 (q13.2-13.3),
chân khoèo 2 bên, túi mật lớn, dây rốn một động mạch

Individuals with the 15q13.3 microdeletion are at increased risk for a wide range of clinical manifestations including intellectual disability, seizures, autism spectrum disorders, and schizophrenia; however, the microdeletion itself does not appear to lead to a clinically recognizable syndrome and a subset of persons with the deletion have no obvious clinical findings. Behavioral problems are common and mainly comprise poor attention span, hyperactivity, mood disorder, and aggressive and/or impulsive behavior. Intellectual disability, observed in about half of the individuals with this recurrent deletion, is usually mild but can be moderate to severe.

https://www.ncbi.nlm.nih.gov/books/NBK50780/