|
KMID : 0390320180280010041
|
|
Chungbuk Medical Journal
2018 Volume.28 No. 1 p.41 ~ p.46
|
|
|
A case of Chromosome 10q26 Deletion Syndrome
|
|
Lee Eun-Young
Yoon Shin-Ae
Lee Ji-Hyuk
|
|
|
Abstract
|
|
|
|
In this report we present a case of chromosome 10q26 deletion syndrome in a female newborn. This syndrome is very rare (approximately 110 cases reported since 1978) and clinically heterogeneous. It can present with a wide range of symptoms and abnormalities, including intrauterine growth retardation (IUGR), microcephaly, craniofacial anomaly, hypotonia, feeding intolerance and congenital cardiac anomaly and urogenital defects. The patient was known to have microcephaly and bilateral renal hypoplasia from prenatal sonography. Following an uneventful full-term vaginal delivery, she was admitted to neonatal intensive care unit (NICU) for investigations. Microcephaly and craniofacial anomalies were evident from birth and she developed hypotonia and feeding intolerance postnatally. Further investigations revealed bilateral renal hypoplasia, vesicoureteric reflux (VUR), patent ductus arteriosus (PDA) and atrial septal defect (ASD). From these findings, a clinical suspicion of a chromosome 10q26 deletion syndrome was raised and was subsequently confirmed by fluorescence in-situ hybridization (FISH).
|
|
|
KEYWORD
|
|
|
10q26 deletion, neonate, hypotonia
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|