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Case Reports
. 2024 Jan-Mar;20(1):97-102.
doi: 10.4183/aeb.2024.97. Epub 2024 Oct 3.

49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER

V F Mestre  1 , B C Silveira  2 , A F L de Carvalho  3 , C S Carvalho  4 , M J S Salles  2
Affiliations
Case Reports

49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER

V F Mestre et al. Acta Endocrinol (Buchar). 2024 Jan-Mar.

Abstract

Context: 49,XXXXY syndrome is an aneuploidy that affects males and is commonly referred to as a variant of Klinefelter Syndrome. It presents a frequency of 1:85,000 to 100,000 births and an etiology related to non-disjunction of homologous chromosomes. Findings include skeletal abnormalities, hypogonadism, and cognitive impairment. Turner syndrome is also an aneuploidy of the sex chromosomes, which affects women, and has a prevalence of 1:2000 to 2500 births and a phenotype characterized by short stature and sexual infantilism.

Objective: The objective of this article was to study the literature, investigate the family members and report the case.

Subjects and methods: Data collection was based on medical records, family history, karyotype analysis, and FISH analysis.

Results: The karyotype of the proband revealed mos 49, XXXXY[45]/46, XY[5]. The patient's mother is affected by mosaic Turner Syndrome low level and the maternal grandmother by inversion of chromosome 9. The father, the younger brother, and the paternal grandmother present variations in the normality of their chromosomes.

Conclusions: It is important to highlight that the early diagnosis of the syndrome and the initiation of therapy reduce biopsychosocial impairment. Investigation of other family members makes genetic counseling more effective.

Keywords: 49; Family history; Genetic counseling; Klinefelter; Secondary findings; Turner syndrome; XXXXY syndrome.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Figure 1
Figure 1
Frontal view of the patient, at 11 years of age, showing: micropenis, prominent elbows, and wide hips.
Figure 2
Figure 2
Family Heredogram. Arrow indicates proband.
Figure 3
Figure 3
FISH image of Proband: ish(DXZ1x4, SRYx1, DYZ3x1)/ 49,XXXXY.
See this image and copyright information in PMC

References

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