AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion

A. Tóth, Erika P. Tardy, Sandor Gombos, Krisztina Hajdu, Jozsef Batorfi, Csilla Krausz

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

A case of prenatally diagnosed Yq deletion is described. Fluorescence in situ hybridisation (FISH) was used to identify the abnormal chromosome and to exclude mosaicism. Based on the cytogenetic result and the ultrasound investigation the pregnancy was continued. A newborn with normal male genitalia was delivered. Microdeletion analysis of the Yq showed the absence of the AZFc region. This type of deletion has been described as being associated with azoospermia or oligozoospermia with a progressive decrease of sperm number over time. Long-term andrological follow-up of the newborn will be necessary with eventual cryoconservation of sperm at early adulthood. The present report proposes that AZF analysis combined with FISH has an important role in accurate genetic counselling in sex chromosome anomalies.

Original languageEnglish
Pages (from-to)253-255
Number of pages3
JournalPrenatal Diagnosis
Volume21
Issue number4
DOIs
Publication statusPublished - 2001

Fingerprint

Fluorescence In Situ Hybridization
Male Genitalia
Oligospermia
Azoospermia
Sex Chromosomes
Mosaicism
Sperm Count
Genetic Counseling
Cytogenetics
Spermatozoa
Chromosomes
Pregnancy

Keywords

  • AZF
  • FISH
  • Infertility
  • Prenatal diagnosis
  • Y chromosome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Tóth, A., Tardy, E. P., Gombos, S., Hajdu, K., Batorfi, J., & Krausz, C. (2001). AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion. Prenatal Diagnosis, 21(4), 253-255. https://doi.org/10.1002/pd.35

AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion. / Tóth, A.; Tardy, Erika P.; Gombos, Sandor; Hajdu, Krisztina; Batorfi, Jozsef; Krausz, Csilla.

In: Prenatal Diagnosis, Vol. 21, No. 4, 2001, p. 253-255.

Research output: Contribution to journalArticle

Tóth, A, Tardy, EP, Gombos, S, Hajdu, K, Batorfi, J & Krausz, C 2001, 'AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion', Prenatal Diagnosis, vol. 21, no. 4, pp. 253-255. https://doi.org/10.1002/pd.35
Tóth, A. ; Tardy, Erika P. ; Gombos, Sandor ; Hajdu, Krisztina ; Batorfi, Jozsef ; Krausz, Csilla. / AZFc deletion detected in a newborn with prenatally diagnosed Yq deletion. In: Prenatal Diagnosis. 2001 ; Vol. 21, No. 4. pp. 253-255.
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