Abstract:
RATIONALE:Sirenomelia is a rare congenital malformation that threatens fetal survivals. The cases in which twin with sirenomelia and chromosomal abnormality have been seldomly reported. We reported a dichorionic twin case in which one twin had sirenomelia, the other twin had a normal phenotype, and they had different chromosomal abnormalities. PATIENT CONCERNS:The abnormal twin was found at 22 weeks by ultrasound. The sirenomelia fetus was complicated with a thoracic stenosis, enlarged rectum without anal opening, the absence of bilateral kidneys, a single umbilical artery, a single lower limb, the abnormal curvature of spine, double outlet of right ventricle, which were the indicatives of the chromosome detection. DIAGNOSIS:The copy number variation of the sirenomelia fetus was detected as a deletion of 4.8Mb in 11p11.12-11q11. The co-twin was found with del(Y)(q11.223q11.23), which was as the same as his father's. The mother had normal chromosome. The parents had normal phenotypes. It was firstly reported a microdeletion with sirenomelia fetus. INTERVENTIONS:There was no specific treatments for the twins. OUTCOMES:Intrauterine death of the sirenomelia fetus was found at 27 weeks and postnatal death after inevitable abortion happened to the co-twin. LESSONS:Prenatal ultrasound was responsible for recognizing sirenomelia, and the detailed ultrasound scanning and chromosome detection should be done for the co-twin. The etiology of sirenomelia remains unclear, and genetic detection is also necessary for its pathogenesis research.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Ting Y,Xue-Lan L,Chun-Bao W,Ting Z,Fen L,Zhen Hdoi
10.1097/MD.0000000000024229subject
Has Abstractpub_date
2021-01-08 00:00:00pages
e24229issue
1eissn
0025-7974issn
1536-5964pii
00005792-202101080-00096journal_volume
100pub_type
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