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2020, Number 2

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Rev Cub Gen 2020; 13 (2)

Characterization of three patients with a supernumerary chromosomal marker derived from an inv dup (15)

Méndez RLA, Molina GO, Blanco PI, Miñoso PS, Barrios MA, de la Torre SME, Arechavaleta MáB

Language: Spanish
References: 25
Page: 1-17
PDF size: 423.82 Kb.


ABSTRACT

Introduction: 25 – 50 % of all supernumerary marker chromosomes come from chromosome 15, most are identified as an inversion duplication of 15 (inv dup 15).
Objectives: To describe three cases of patients with an inv dup chromosomal marker (15), detected in a different way, who are referred to the cytogenetics laboratory of the National Center for Medical Genetics in Havana for dissimilar causes.
Methods: Conventional cytogenetic analyzes in blood and amniotic fluid were performed by the standardized method in the laboratory, based on the protocols of the international guidelines of the Cytogenetics Laboratory Manual. For molecular cytogenetics analysis, VYSIS probes were used, from ABBOT specifically the probe: LSI SRNPN spectrum green / CEP 15 (D15Z1) spectrum red / LSI PML spectrum orange or another variant of this probe with LSI SRNPN spectrum orange / CEP 15 (D15Z1 ) spectrum green / LSI PML spectrum Orange.
Results: Case I, is detected prenatally by means of a fluorescent in situ hybridization test (FISH) in interphase cells, it presents an inv dup15 that includes the 15q11.2-q13 region. There are no fetal ultrasound abnormalities. The couple decides to continue the pregnancy. The girl currently has psycho-motor retardation. Case II, inv dup 15 was detected in a six-year-old girl, with autism spectrum and intellectual disability. The marker includes the 15q11.2-q13 region. Case III, the marker chromosome is detected in a woman of normal intelligence with repeated spontaneous abortions. The inv dup of 15 extends from the centromere to the 15q11.1 region.
Conclusions: The implications in the phenotype of individuals, with a supernumerary marker of inv dup 15, are given by the inclusion or not of the critical zone of the Prader Willy / Angelman syndromes. The inclusion of this region in the marker causes intellectual disability and other physical abnormalities, without detectable effects on prenatal ultrasound. If the marker does not include this region, it is only heterochromatin, it can influence the correct gametogenesis of the carrier, affecting the fertility of the person.


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