This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases' had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized. (C) 2004 Elsevier SAS. All rights reserved
A causal relationship between specific chromosome abnormalities and human disease and developmental ...
We report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and ...
[[abstract]]"Objective Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives ris...
This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation...
This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation...
SUMMARY A family is described in which 2 sibs had similar congenital abnormalities. Chromosome inves...
We report on an 8-year-old girl with minor anomalies consistent with 18q- syndrome and mild developm...
SUMMARY Female first cousins, aged 21 and 21 years, with many of the characteristic features of tris...
Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome ...
In addition to detecting trisomies of whole chromosomes, QF-PCR can also detect partial trisomies of...
The parental origin of the additional chromsome 18 in 63 trisomic conceptions was maternal in 61 (96...
Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocatio...
We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and...
SummaryObjectivePrenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to di...
Duplications or deletions are present in a high percentage of the gametes produced by individuals ca...
A causal relationship between specific chromosome abnormalities and human disease and developmental ...
We report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and ...
[[abstract]]"Objective Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives ris...
This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation...
This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation...
SUMMARY A family is described in which 2 sibs had similar congenital abnormalities. Chromosome inves...
We report on an 8-year-old girl with minor anomalies consistent with 18q- syndrome and mild developm...
SUMMARY Female first cousins, aged 21 and 21 years, with many of the characteristic features of tris...
Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome ...
In addition to detecting trisomies of whole chromosomes, QF-PCR can also detect partial trisomies of...
The parental origin of the additional chromsome 18 in 63 trisomic conceptions was maternal in 61 (96...
Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocatio...
We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and...
SummaryObjectivePrenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to di...
Duplications or deletions are present in a high percentage of the gametes produced by individuals ca...
A causal relationship between specific chromosome abnormalities and human disease and developmental ...
We report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and ...
[[abstract]]"Objective Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives ris...