Santiago RJS, Ortiz CJI, Hernández HRJ

Language: Spanish
References: 8
Page: 17-19
PDF size: 57.19 Kb.

ABSTRACT

Introduction: Chromosomal anormalities can be numerical (65%) or structural (35%) of these structural rearrangements are more frequent unbalanced (17.2%) than balanced (8.6%), and almost EL5% of couples with a history of abortions have chromosomal abnormality.
Patients and methods: We report a newborn that was found to chromosome 18q-deletion full study of amniocentesis, and confirmed mosaic structural chromosomal birth is practiced banding karyotype G.
Results: The mother of 29 years, first pregnancy, pregnancy ended with that finding of cystic hygroma, cleft lip and palate is performed amniocentesis to karyotype studies and reports deletion of the long arm of chromosome 18 (of 18 q-). The patient was born by birth eutósico of 2,940 g, height: 50 cm, Apgar 7-7. At birth, multiple birth is found: bilateral cleft lip and palate, ocular hypertelorism, low set ears with ear canal defect, short neck, hypospadias, bilateral cryptorchidism, feets with edema, apparent microcephaly, atriquosis, pterygium colli, arachnodactyly. It takes finding 46XY karyotype in 60 cells and 46XY, 18q-in 40 cells. Confirming the presence of a deletion of long arms of chromosome 18, with significant alteration of the phenotype.
Conclusions: We believe that in this case the whole patient study to define the percentage of affected cells is an important prognostic status and diagnosed. And allows for not only provide the screening on survival but the degree of intervention and rehabilitation therapies.

REFERENCES

1. Tune E, Demirhan O, Demir C, Tastemir D. Cytogenetic study of recurrent Miscarriages and their parents. Genetika 2007; 43: 545-552.

2. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J et al. Cryptic deletions are a common finding in balanced reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med genet 2007; 44: 750-762.

3. Forrester MB, Merz RD. Patterns of chromosomal deletions identified by a birth defects registry, Hawaii, 1986-2003. Congenit Anom 2007; 47: 58-62.

4. Barber JC. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005; 42: 609-629.

5. Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet Semin Med Genet 2007; 145: 87-98.

6. Hernández R, Cerda R, Cortes E, Dávila M. Estimación de la tasa de incidencia de algunos defectos congénitos en Monterrey, México. Rev Ginecol Obstet Mex 2002; 70: 597-600.

7. Kowalczyk M, Srebniak M, Tomaszewska A. Chromosome abnormalities without phenotypic consequences. J Appl Genet 2007; 48: 157-166.

8. Cortés E, Cerda R, Silva J, Hernández R, Leal C. Evaluation of sex chromosome aneuploides in women with Turner’s syndrome by g-banding and FISH. A serial case study. J Reprod Med 2003; 48: 804-808.