Prenatal diagnosis of de novo interstitial deletion of proximal 4q by maternal serum screening for Down syndrome

Te Yao Hsu*, Fu Tsai Rung, Chia Yu Ou, Pi Yu Hsiao, Fu Jen Huang, Chan Chao Changchien, Shiuh Young Chang

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

15 Scopus citations

Abstract

Deletion of the proximal portion of chromosome 4q is apparently rare. To our knowledge, prenatal diagnosis of the interstitial deletion of 4q 12-21.1 has never been reported. We present a prenatal case of 4q deletion in association with a positive Down syndrome screening test of an elevated maternal serum free beta human chorionic gonadotrophin (β-hCG) level. The prenatal sonogram revealed intra-uterine growth retardation (IUGR) and shortening of the femur. Facial dysmorphism included micrognathia, depressed nasal bridge and low-set ears, these anomalies were evident at the postnatal examination. All of the anomalies were consistent with those described in proximal 4q deletion syndrome. Our case suggests that chromosome studies may be indicated for patients with high maternal serum free β-hCG and IUGR in the early second trimester.

Original languageEnglish
Pages (from-to)1323-1327
Number of pages5
JournalPrenatal Diagnosis
Volume18
Issue number12
DOIs
StatePublished - 1998
Externally publishedYes

Keywords

  • 4q deletion
  • Free beta human chorionic gonadotrophin
  • Intra-uterine growth retardation

Fingerprint

Dive into the research topics of 'Prenatal diagnosis of de novo interstitial deletion of proximal 4q by maternal serum screening for Down syndrome'. Together they form a unique fingerprint.

Cite this