Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: Case report and review

P. Prontera, G. Clerici, L. Bernardini, M. Schippa, A. Capalbo, I. Manes, M. G. Giuffrida, M. G. Barbieri, C. Ardisia, Emilio Donti

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We describe a foetus with an interstitial deletion of 1q detected in amniotic fluid cells and we review the literature of similar pre- and postnatal cases, in order to identify prognostic factors useful for prenatal counselling. Foetal/parents karyotyping and FISH with whole chromosome 1 paint and BAC clone specific for 1q23-32 region were performed. Further 100 Kb resolution array-CGH analysis was executed after pregnancy termination on DNA extracted from foetal skin fibroblasts. Cytogenetic analyses revealed a de novo interstitial deletion involving the long arm of chromosome 1. FISH analysis confirmed that the deletion involves the intermediate 1q31.2 region. Foetal ultrasound (US), performed at 21 weeks of gestation, showed intrauterine growth restriction, shortening of the long bones, echogenic intracardiac focus and mild cerebral ventriculomegaly. Array-CGH localized the deletion in a DNA sequence of about 21 Mb in the 1q24.3-q31.3 region. Our findings, together with available data on patients with 1q deletion, suggest that the most severe phenotypes are not simply associated with larger deletion, and that the results of prenatal US assessment, rather than a fine molecular characterization of the deletion, should be taken into account for prognostic evaluation.

Original languageEnglish
Pages (from-to)41-48
Number of pages8
JournalGenetic Counseling
Volume22
Issue number1
Publication statusPublished - 2011

Fingerprint

Chromosomes, Human, Pair 1
Prenatal Diagnosis
Karyotyping
Pregnancy
Paint
Cytogenetic Analysis
Amniotic Fluid
Hydrocephalus
Counseling
Fetus
Clone Cells
Fibroblasts
Parents
Phenotype
Bone and Bones
Skin
DNA
Growth

Keywords

  • Array-CGH
  • Interstitial 1q deletion
  • Prenatal diagnosis
  • Review
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Prontera, P., Clerici, G., Bernardini, L., Schippa, M., Capalbo, A., Manes, I., ... Donti, E. (2011). Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: Case report and review. Genetic Counseling, 22(1), 41-48.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion : Case report and review. / Prontera, P.; Clerici, G.; Bernardini, L.; Schippa, M.; Capalbo, A.; Manes, I.; Giuffrida, M. G.; Barbieri, M. G.; Ardisia, C.; Donti, Emilio.

In: Genetic Counseling, Vol. 22, No. 1, 2011, p. 41-48.

Research output: Contribution to journalArticle

Prontera, P, Clerici, G, Bernardini, L, Schippa, M, Capalbo, A, Manes, I, Giuffrida, MG, Barbieri, MG, Ardisia, C & Donti, E 2011, 'Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: Case report and review', Genetic Counseling, vol. 22, no. 1, pp. 41-48.
Prontera, P. ; Clerici, G. ; Bernardini, L. ; Schippa, M. ; Capalbo, A. ; Manes, I. ; Giuffrida, M. G. ; Barbieri, M. G. ; Ardisia, C. ; Donti, Emilio. / Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion : Case report and review. In: Genetic Counseling. 2011 ; Vol. 22, No. 1. pp. 41-48.
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