Genetics Center - VACSERA

08/08/2026

A 29-years-old male evaluated for clinical azospermia. Genetic testing for Y-chromosome microdeletion confirmed a normal AZF region (no deletions detected).

Cytogenetic study revealed:

46,X,r(Y)(p11;q11)[50]

Male karyotype with a ring Y chromosome .
*No Mosaicism is detected in all the examined 50 cells*
The ring Y chromosome is associated with impaired spermatogenesis and may explain the associated azospermia despite normal AZF test results.
*Clinical correlation and genetic counseling are recommended.

#وراثة #حالات #معمل #تابعونا

20/05/2026

An 18-month-old female presenting with clinical features consistent with asymmetric crying face syndrome.

Cytogenetic study revealed:

46,XX,t(2;8)(q14.2;p22)

This female karyotype shows a balanced reciprocal translocation between chromosome 2q14.2 and chromosome 8p22, with no detectable gain or loss of chromosomal material at the current resolution.

*However, disruption at or near the breakpoints may affect gene function or regulation and could be clinically relevant, especially in the presence of developmental, neurological, or unexplained features.

**Further testing, such as chromosomal microarray or whole exome/genome sequencing, is recommended to assess for sub-microscopic imbalances or gene disruptions.
#فاكسيرا #حالات #وراثة #تابعونا

03/05/2026

a female patient who married at the age of 17 years. Her obstetric history is significant for gravida 5, para 1, abortus 4 (G5P1A4). She has one living daughter and a history of four spontaneous abortions..

cytogenetic study revealed:

46,XX,t(10;11)(p11.23;q23.3)
Female karyotype with a balanced reciprocal translocation between the short arm of chromosome 10 and the long arm of chromosome 11. No apparent gain or loss of chromosomal material is observed.
Balanced translocation carriers are typically unaffected but have an increased risk of generating unbalanced gametes, which may result in recurrent pregnancy loss or abnormal offspring.

** Preimplantation genetic testing for structural rearrangements (PGT-SR) or prenatal diagnostic testing in future pregnancies.
#فاكسيرا #حالات #وراثة #تابعونا

12/04/2026

37 y.o. female, G1P1, presenting with secondary infertility and a history of six unsuccessful IVF,

Cytogenetic study revealed:

46, XX,t(4;15)(q21.3;q26.1)
Female karyotype with a balanced reciprocal translocation between the long arms of chromosomes 4 and 15. This can result in the production of gametes with unbalanced chromosomal content, which may lead to the reported infertility & recurrent failed IVF.
** preimplantation genetic testing (PGT-A & PGT-SR) are useful to select embryos with a balanced or normal chromosomal complement.

#فاكسيرا #حالات #وراثة #تابعونا

20/01/2026

10/01/2026

1 year and 7 month female Patient presenting by intrauterine microcephaly, delayed Motor and Mental development.
Human phenotype Ontology:
-Global developmental delay.
- Microcephaly.
- Nonprogressive intellectual disability.
- Strabismus.
-abnormal basal ganglia MRI signal intensity.
Cytogenetic study reveals:
46, XX,del(7)(q34)
Female karyotype that shows a deletion of the long arm of chromosome 7 at band q34.

#وراثة #حالات #تابعونا