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
WOS: 000337197200007PubMed ID: 24032288Partial trisomy 2p24 -> pter and monosomy 18q22.1 -> qter res...
The parental origin of the additional chromsome 18 in 63 trisomic conceptions was maternal in 61 (96...
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may...
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...
SUMMARY Female first cousins, aged 21 and 21 years, with many of the characteristic features of tris...
In addition to detecting trisomies of whole chromosomes, QF-PCR can also detect partial trisomies of...
We report on an 8-year-old girl with minor anomalies consistent with 18q- syndrome and mild developm...
Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocatio...
Abstract Background Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA)...
In this report we present a malformed female newborn with partial trisomy 20q who was the unbalanced...
Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We r...
We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and...
Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome ...
A 1-year-old boy with trisomy 18 (pter→q12) following a paternal balanced translocation revealed mic...
WOS: 000337197200007PubMed ID: 24032288Partial trisomy 2p24 -> pter and monosomy 18q22.1 -> qter res...
The parental origin of the additional chromsome 18 in 63 trisomic conceptions was maternal in 61 (96...
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may...
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...
SUMMARY Female first cousins, aged 21 and 21 years, with many of the characteristic features of tris...
In addition to detecting trisomies of whole chromosomes, QF-PCR can also detect partial trisomies of...
We report on an 8-year-old girl with minor anomalies consistent with 18q- syndrome and mild developm...
Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocatio...
Abstract Background Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA)...
In this report we present a malformed female newborn with partial trisomy 20q who was the unbalanced...
Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We r...
We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and...
Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome ...
A 1-year-old boy with trisomy 18 (pter→q12) following a paternal balanced translocation revealed mic...
WOS: 000337197200007PubMed ID: 24032288Partial trisomy 2p24 -> pter and monosomy 18q22.1 -> qter res...
The parental origin of the additional chromsome 18 in 63 trisomic conceptions was maternal in 61 (96...
The phenotype of structural chromosome 18 mutations is heterogenous, the clinical manifestations may...