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Case Reports
. 2021 May 6;9(5):e04141.
doi: 10.1002/ccr3.4141. eCollection 2021 May.

A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal

Susan Cordes Selby  1 , Aiko Iwata-Otsubo  2 , Paula Delk  2 , Todd D Nebesio  3 , Anisha Gohil  3 , Peggy Matlock  2 , Wilfredo Torres-Martinez  2 , Gail H Vance  2
Affiliations
Case Reports

A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal

Susan Cordes Selby et al. Clin Case Rep. .

Abstract

Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal.

Keywords: 3p duplication; 9p deletion; DMRT1; disorders of sex development.

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Conflict of interest statement

All authors disclose no conflict of interest in contributing to this manuscript.

Figures

FIGURE 1
FIGURE 1
Pictures, chromosomes, and CMA results of the two patients and their father. A, Frontal and lateral views of the patient 1 at the age of 9 mo showing a square face, hypertelorism, short palpebral fissures, short nose, full cheeks, cupped ears, smooth philtrum, and micrognathia. B, Frontal and lateral views of the patient 2 at the age of 2 y 10 mo showing hypertelorism, epicanthal folds, smooth philtrum, and depressed nasal bridge. C, CMA results of patient 1 and patient 2. Both patients have the same deletion on chromosome 9p and duplication on chromosome 3p. Patient 2 has additional 85 kb‐ and 42 kb‐deletions with no genes present in these regions. These CNVs are considered insignificant. D, Chromosomes 3 and 9 from the father, patient 1 and patient 2. Arrows on chromosomes 3 and 9 indicate the translocated segments. Arrows for each of the chromosomes 9 for patient 1 and 2 indicate the duplication of 3p on the short arm of chromosome 9
See this image and copyright information in PMC

References

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