A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
نویسندگان
چکیده
منابع مشابه
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome.
Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromoso...
متن کاملPrenatal diagnosis of 18p deletion and isochromosome 18q mosaicism in a fetus with a cystic hygroma.
Although, deletion of short arm of chromosome 18 is one of the most frequent autosomal terminal deletions, mosaic form of 18p deletion is infrequently observed. Furthermore, prenatally detected cases of 18p deletion and isochromosome 18q mosaicism are extremely rare. Herein, we present a case of del(18p)/i(18q) mosaicism, prenatally detected after chori- onic villus sampling. A 37-year-old woma...
متن کاملA de novo Deletion of Chromosome 18p With Persistent Limb Tremor and Difficulty Speaking: A Case Report
The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
متن کاملPrenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.
A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the presence of both cell lines. The pregnancy was terminated and the two cell lines were demonstrated in varying proportions in the fetal tissues. The few abnormal features seen in the fetus may represent a mild expression of the 18p-- phenotype inhibiting the effects o...
متن کامل18p- syndrome and hypopituitarism.
A patient is described with 18p- syndrome and hypopituitarism. This is the first patient with this syndrome who has been shown to benefit from growth hormone therapy. Patients with this syndrome who have growth deficiency should be considered for evaluation for hypopituitarism, if the quality of their lives would improve with an increase in stature.
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ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2017
ISSN: 2146-4596,2146-460X
DOI: 10.1055/s-0037-1604099