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Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
Prenat Diagn. 2005 Jun; 25(6):451-5.PD

Abstract

OBJECTIVES

To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature.

CASE

An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, microcephaly, a cleft lip and renal hypoplasia.

RESULTS

Cytogenetic analysis and FISH studies of the cultured amniocytes revealed a de novo terminal inversion duplication of the short arm of chromosome 4 characterized by a duplication of 4p14-p16.1 chromosome region concomitant with a terminal deletion 4p16.1-pter. The karyotype was thus: 46,XX, inv dup del (4)(:p14-->p16.1::p16.1-->qter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and abnormalities consistent with a Wolf-Hirschhorn syndrome (WHS) diagnosis, clinical manifestations of partial 4p trisomy being mild.

CONCLUSION

Although relatively rare, inverted duplications have been reported repeatedly in an increasing number of chromosomes. Only two previous cases with de novo inv dup del (4p) and one with tandem dup 4p have been reported, all of them associated with a 4pter deletion. We report the first case diagnosed prenatally. Breakpoints are variable, resulting in different abnormal phenotype. In our case, clinical manifestations resulted in a WHS phenotype.

Authors+Show Affiliations

Laboratoire de Cytogénétique, Institut de Puériculture, Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15966060

Citation

Beaujard, M-P, et al. "Prenatal Detection of a De Novo Terminal Inverted Duplication 4p in a Fetus With the Wolf-Hirschhorn Syndrome Phenotype." Prenatal Diagnosis, vol. 25, no. 6, 2005, pp. 451-5.
Beaujard MP, Jouannic JM, Bessières B, et al. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Prenat Diagn. 2005;25(6):451-5.
Beaujard, M. P., Jouannic, J. M., Bessières, B., Borie, C., Martin-Luis, I., Fallet-Bianco, C., & Portnoï, M. F. (2005). Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. Prenatal Diagnosis, 25(6), 451-5.
Beaujard MP, et al. Prenatal Detection of a De Novo Terminal Inverted Duplication 4p in a Fetus With the Wolf-Hirschhorn Syndrome Phenotype. Prenat Diagn. 2005;25(6):451-5. PubMed PMID: 15966060.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype. AU - Beaujard,M-P, AU - Jouannic,J-M, AU - Bessières,B, AU - Borie,C, AU - Martin-Luis,I, AU - Fallet-Bianco,C, AU - Portnoï,M-F, PY - 2005/6/21/pubmed PY - 2005/10/8/medline PY - 2005/6/21/entrez SP - 451 EP - 5 JF - Prenatal diagnosis JO - Prenat Diagn VL - 25 IS - 6 N2 - OBJECTIVES: To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature. CASE: An amniocentesis for chromosome analysis was performed at 33 weeks' gestation because ultrasound examination showed a female fetus with multiple abnormalities consisting of severe intrauterine growth retardation, microcephaly, a cleft lip and renal hypoplasia. RESULTS: Cytogenetic analysis and FISH studies of the cultured amniocytes revealed a de novo terminal inversion duplication of the short arm of chromosome 4 characterized by a duplication of 4p14-p16.1 chromosome region concomitant with a terminal deletion 4p16.1-pter. The karyotype was thus: 46,XX, inv dup del (4)(:p14-->p16.1::p16.1-->qter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and abnormalities consistent with a Wolf-Hirschhorn syndrome (WHS) diagnosis, clinical manifestations of partial 4p trisomy being mild. CONCLUSION: Although relatively rare, inverted duplications have been reported repeatedly in an increasing number of chromosomes. Only two previous cases with de novo inv dup del (4p) and one with tandem dup 4p have been reported, all of them associated with a 4pter deletion. We report the first case diagnosed prenatally. Breakpoints are variable, resulting in different abnormal phenotype. In our case, clinical manifestations resulted in a WHS phenotype. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/15966060/Prenatal_detection_of_a_de_novo_terminal_inverted_duplication_4p_in_a_fetus_with_the_Wolf_Hirschhorn_syndrome_phenotype_ L2 - https://doi.org/10.1002/pd.1154 DB - PRIME DP - Unbound Medicine ER -