RESUMO
In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, microcephaly, retrognathia, bifid uvula, ear malformations, and heart defects in addition to typical features of PWS. Our proband exhibited increased deep tendon reflexes, an atypical feature which is not reported in the reviewed literature. The severity of the phenotype is not directly associated with the size of the deletion; however, using a combination of methods, the identification of breakpoints and the deleted genes can be helpful for the prognostication in patients with atypical PWS deletions.
Assuntos
Cromossomos Humanos Par 14 , Cromossomos Humanos Par 15 , Síndrome de Prader-Willi/genética , Translocação Genética , Deleção Cromossômica , Hibridização Genômica Comparativa , Feminino , Humanos , Recém-Nascido , FenótipoRESUMO
Urinary tract infection is a common bacterial disease that presents during childhood and may lead to renal scarring. Several studies have shown a strong association between the angiotensin converting enzyme (ACE) deletion polymorphism and renal scarring in children with vesicoureteric reflux (VUR). The purpose of this study was to investigate the possible correlation between the ACE deletion polymorphism and renal scarring in 186 children with urinary tract infection (UTI), of whom 90 were renal scar positive and 96 were renal scar negative. The control group consisted of 129 children with no UTI. Renal scars were diagnosed by means of (99m)Tc-dimercapto-succinic acid scans, and ACE genotypes were determined as II, ID, and DD by PCR analyses. The ACE genotype distribution was 10% II, 67% ID, and 23% DD in the renal scar-positive group, 18% IotaIota, 42% ID, and 40% DD in the renal scar-negative group, and 22% II, 47% ID, and 31% DD in the control group. No correlation was found between the DD genotype and renal scar formation in children with UTI. The same results were obtained following strafication of the patients by VUR and age of the first urinary tract infection. In conclusion, the results of this study suggest that the DD genotype is not an independent risk factor for renal scarring in children with UTI.
Assuntos
Predisposição Genética para Doença , Nefropatias/genética , Peptidil Dipeptidase A/genética , Polimorfismo de Nucleotídeo Único , Infecções Urinárias/genética , Cicatriz/etiologia , Cicatriz/genética , Feminino , Genótipo , Humanos , Nefropatias/etiologia , Masculino , Reação em Cadeia da Polimerase , Infecções Urinárias/complicações , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/genéticaRESUMO
The live birth of a triploidy infant is a very rare event and death usually occurs within the first hours of life. Triploid cases with a survival of more than two months are infrequent. We report on an infant with a 69,XXX chromosome constitution who survived 164 days. Chromosomal analysis demonstrated a 69,XXX karyotype with no evidence of mosaicism. This is the longest survival reported for this condition to date in Greece and the fourth longest worldwide. The infant was admitted to our clinic several times due to respiratory problems, and supplementary oxygen was required. The improved survival of our case was possibly due to better management of respiratory illness and prematurity, and these are essential factors that physicians should consider carefully with such rare cases.