RESUMEN
Here we describe clinical and cytogenetic data on a female child whom had been referred to our laboratory suspected to have Turner syndrome since she had webbed neck. Cytogenetic analysis revealed that she had deletion at 11q23.2 to 11q terminal so her karyotype was ascertained as 46,XX,del(11)(q23.2). Her parents had normal karyotypes. In addition to many clinical features of del(11q ) syndrome the case had poor vision which is not common for this syndrome. Clinical features of this case and a few published cases will be reviewed briefly.
Asunto(s)
Síndrome de Deleción Distal 11q de Jacobsen/genética , Cariotipificación , Síndrome de Turner/genética , Baja Visión/genética , Preescolar , Femenino , Humanos , Síndrome de Deleción Distal 11q de Jacobsen/diagnóstico , Fenotipo , Síndrome de Turner/diagnóstico , Baja Visión/diagnósticoRESUMEN
The clinical manifestations and cytogenetic details of a de novo partial deletion of the short arm of chromosome 8, del(8)(p23.1), and inversion of long arm chromosome 7, inv(7)(q11.2q32), are described. The case was a 22 month old girl referred to our cytogenetic laboratory due to many abnormal features such as congenital microcephaly, hypotonia, developmental delay, strabismus, highly arched palate, hypernatremia, hypermagnesemia and deafness. Chromosome analysis revealed 46,XX, inv(7)(q11.2q32),del(8)(p23.1) de novo karyotype. The concurrence of these two abnormalities has not been reported previously.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Inversión Cromosómica , Cromosomas Humanos Par 7/genética , Cromosomas Humanos Par 8/genética , Sordera/genética , Discapacidades del Desarrollo/genética , Femenino , Humanos , Hipernatremia/genética , Lactante , Cariotipificación , Microcefalia/genética , Hipotonía Muscular/genéticaRESUMEN
BACKGROUNDS: While XXY aneuploidy is the most common disorder of sex chromosomes in men, complex chromosomal rearrangements (CCRs) are rare in humans. CASE DESCRIPTION: Here we describe clinical and cytogenetic findings in a male referred to our cytogenetic laboratory by an infertility clinic. The patient's age was 35 at the time of referral. Total azoospermia was confirmed on semen analysis. RESULTS: The karyotype of peripheral blood showed 47,XXY,t(1;3;5)(p22;q29;q22). The mother had the same CCRs. DISCUSSION: To our best of our knowledge this is the first case of 47,XXY with CCRs. We think it is important to report such a unique chromosomal occurrence.
Asunto(s)
Reordenamiento Génico , Infertilidad Masculina/genética , Síndrome de Klinefelter/genética , Adulto , Aneuploidia , Azoospermia/genética , Citogenética/métodos , Humanos , MasculinoRESUMEN
We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood samples using conventional staining methods. Chromosome anomalies were identified in 205 of the patients (23.6%). The majority were Down's syndrome cases (n = 138). In 33 males, a positive fragile X anomaly was found. The remainder (n = 34) had other chromosomal abnormalities including structural chromosome aberrations (n = 23), marker chromosomes with an unknown origin (n = 3), sex chromosome aneuploidy (n = 6) and trisomy 18 (n = 2). The contribution of chromosome aberrations to the cause of MR in this group of patients is discussed.
