Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2004 / Cilt: 10 - Sayı: 1

A case of Wolf-Hirschhorn Syndrome prenatal diagnosed

Pages
57–59
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This is a case Wolf-Hirschhorn syndrome with paternal origine hence the pregnancy was terminated.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:We report a case with 4p- syndrome that was diagnosed prenatally.
📊
Key Findings & Data:Chromosome analysis revealed a 46 XY, del (4)(p15.3) karyotype.
💡
Conclusion & Impact:This is a case Wolf-Hirschhorn syndrome with paternal origine hence the pregnancy was terminated.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Gebelik · Doğum öncesi tanı · Pregnancy

Abstract

We report a case with 4p- syndrome that was diagnosed prenatally. Whose mother has cleft lip and father's aunt has had a mentally retarded child. Ultrasonography had been ordered because of these features. Lateral cleft lip and cleft palate, enlargment of posterior horn of lateral ventricle and posterior fossa, agenesis inferior vermis (Dandy-Walker variant), unilateral enlargement of pelvis renalis were detected. Cordosentesis was performed. Chromosome analysis revealed a 46 XY, del (4)(p15.3) karyotype. The mother's karyotype was normal but the father had a translocation, 46 XY, t(4;7) (p15; q36). This is a case Wolf-Hirschhorn syndrome with paternal origine hence the pregnancy was terminated.

🔖

Cite This Article

ATEŞER, G., İBRAHİMOĞLU, L., BAHÇE, M., AKSOY, F. (2004). A case of Wolf-Hirschhorn Syndrome prenatal diagnosed. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 10 - Sayı: 1, 57–59. https://ajindex.com/articles/227206

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (7)

  1. Zelweger H, Bardach J, Bordwell J, Williams K. The short arm deletion syndrome of chromosome 4 (4p- Syndrome). Arch Otolaryngology 1975; 101:29-32
  2. Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H. Defizienz an den kurzen Armen eines Chromosoms, Nr.4 Humangenetik 1965; 1:397-413
  3. Hirschhorn K, Cooper HL. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. Hum Chromos Newsletter 1961; 4:14
  4. Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C: The Wolf-Hirschhorn Syndrome in fetuses. Clin Genet 1992; 42:281-7
  5. De Keermaecker B, Albert M, Hillion Y, Ville Y. Prena tal diagnosis of brain abnormalities in Wolf-Hirschhorn (4p_) syndrome. Prenat Diagn 2002; 22:366-70
  6. Syrrou M, Borghgraef M, Fryns JP. Unusual chromoso mal mosaicism in Wolf-Hirschhorn Syndrome: del (4) (p16)/der(4)(qter-q31.3: pter-qter). 2001; 104:199-203
  7. Zollino M, Di Stefano C, Zampino G, et al. Genotype phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn Syndrome. 2000; 94:254-61.