Long-term follow-up of females with unbalanced X;Y translocations - Reproductive and nonreproductive consequences

Whitney A. Dobek, Hyung Goo Kim, Cedric A. Walls, Lynn P. Chorich, Sandra Pt Tho, Zi Xuan Wang, Paul G McDonough, Lawrence C Layman

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Background: FeMales with Xp;Yq translocations manifest short stature and normal fertility, but rarely have follow-up. The study purpose was to define the phenotype of a family with t(X;Y)(p22.3;q11.2), determine long-term reproductive function, and compare to all reported feMale cases. Methods: Comprehensive clinical and molecular analyses were performed on the feMale proband, who had regular menses, normal endocrine function, and three pregnancies spanning seven years - a normal liveborn Male and two with unbalanced translocations (liveborn feMale and stillborn Male). Results: The translocation truncated KAL1 and deleted 44 genes on der(X). Our report constitutes the longest follow-up of an X;Y translocation feMale. She had no evidence of Kallmann syndrome, gonadoblastoma, or cardiovascular disease. Detailed analysis of 50 published feMale cases indicated a uniform lack of follow-up and significant morbidity - intellectual disability (10%), facial dysmorphism (28%), eye abnormalities (14%), and skeletal defects (28%). Conclusions: Our findings indicate normal ovarian function to date in a woman with an t(X;Y)(p22.3;q11.2). However, additional published studies in the literature suggest careful follow-up is necessary and contradict the generalization that feMales with Xp;Yq translocations are usually normal except for short stature.

Original languageEnglish (US)
Article number13
JournalMolecular Cytogenetics
Volume8
Issue number1
DOIs
StatePublished - Dec 12 2015

Fingerprint

Genes
Gonadoblastoma
Kallmann Syndrome
Eye Abnormalities
Defects
Menstruation
Intellectual Disability
Fertility
Cardiovascular Diseases
Morbidity
Phenotype
Pregnancy

Keywords

  • Chromosome translocation
  • KAL1 gene
  • Kallmann syndrome
  • SHOX gene
  • Short stature
  • X;Y translocation
  • Xp22 deletion

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

Cite this

Long-term follow-up of females with unbalanced X;Y translocations - Reproductive and nonreproductive consequences. / Dobek, Whitney A.; Kim, Hyung Goo; Walls, Cedric A.; Chorich, Lynn P.; Tho, Sandra Pt; Wang, Zi Xuan; McDonough, Paul G; Layman, Lawrence C.

In: Molecular Cytogenetics, Vol. 8, No. 1, 13, 12.12.2015.

Research output: Contribution to journalArticle

Dobek, Whitney A. ; Kim, Hyung Goo ; Walls, Cedric A. ; Chorich, Lynn P. ; Tho, Sandra Pt ; Wang, Zi Xuan ; McDonough, Paul G ; Layman, Lawrence C. / Long-term follow-up of females with unbalanced X;Y translocations - Reproductive and nonreproductive consequences. In: Molecular Cytogenetics. 2015 ; Vol. 8, No. 1.
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AU - Chorich, Lynn P.

AU - Tho, Sandra Pt

AU - Wang, Zi Xuan

AU - McDonough, Paul G

AU - Layman, Lawrence C

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AB - Background: FeMales with Xp;Yq translocations manifest short stature and normal fertility, but rarely have follow-up. The study purpose was to define the phenotype of a family with t(X;Y)(p22.3;q11.2), determine long-term reproductive function, and compare to all reported feMale cases. Methods: Comprehensive clinical and molecular analyses were performed on the feMale proband, who had regular menses, normal endocrine function, and three pregnancies spanning seven years - a normal liveborn Male and two with unbalanced translocations (liveborn feMale and stillborn Male). Results: The translocation truncated KAL1 and deleted 44 genes on der(X). Our report constitutes the longest follow-up of an X;Y translocation feMale. She had no evidence of Kallmann syndrome, gonadoblastoma, or cardiovascular disease. Detailed analysis of 50 published feMale cases indicated a uniform lack of follow-up and significant morbidity - intellectual disability (10%), facial dysmorphism (28%), eye abnormalities (14%), and skeletal defects (28%). Conclusions: Our findings indicate normal ovarian function to date in a woman with an t(X;Y)(p22.3;q11.2). However, additional published studies in the literature suggest careful follow-up is necessary and contradict the generalization that feMales with Xp;Yq translocations are usually normal except for short stature.

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