Ring chromosome 9 in a newborn.

Ring chromosome 9 in a newborn: Ring chromosome 9 is a rare genetic disorder observed in the children with variable clinical presentation and phenotype. Among several ring formation, individuals with r(9) generally have less distinct clinical features. We examined in a newborn patient with trigonocephaly, upward-slanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis. We compared the clinical findings of our cases with previously reported patients in the literature.

Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography.

Oculoauriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies. We report a patient with unusual features diagnosed prenatally by 3D ultrasonography at 21 weeks' gestation without a family history. An early diagnosis was suggested by observation of a maxillary cleft-plate, multiple vertebral segmentation defects and hypoplastic thumb. Postnatal evaluation also revealed ambiguous genitalia and club feet in addition to the prenatally and postnatally diagnosed classical Goldenhar syndrome features like hemifacial microsomia, preauricular and facial skin tags, coloboma of eyelids, epibulbar dermoid.

A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Porencephaly is an extensively encountered condition in pediatric neurology practice and leads to serious morbidity with its complications. Important etiological factors are trauma, hemorrhage, infection and thrombophilic factors that may cause destruction in the developing brain. Col4A1 mutations were also shown in familial porencephaly cases. We describe two siblings with porencephaly, hemiparesis, epilepsy, atrophic kidney in one of the siblings and asymptomatic mothers with an arachnoid cyst. We performed Col4A1 gene mutation screening and detected a novel mutation in mother and both of the children. This family has some features previously undescribed in patients with mutations of Col4A1 gene like atrophic kidney in one sibling and arachnoid cyst in the mother. We discuss here the possible relationship between these abnormalities and the mutation.

Ovulation induction with gonadotropins causes increased sister chromatid exchanges.

Gonadotropins are widely accepted agents for ovulation induction in infertile women. On the other hand, several authors discuss the possible effect of gonadotropins on the developmental mechanism of ovarian cancer. SCE is a method of genotoxicity investigation and it is an excellent parameter to monitor the DNA damage and repair. There are numbers of studies showing the relationship between endogenous or exogenous hormones and SCEs. The aim of this study was to investigate with SCE techniques the effects of long-term (6 months) use of gonadotropins on DNA as we couldn't find any other study on the effect of long term use. We found increased sister chromatid exchange rates in a study group as compared to a control group. This may be one of the causes of increased ovarian cancer risk in infertile population.

A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

Coffin-Lowry syndrome is an X-linked disorder characterized by mental retardation, characteristic facial features, skeletal abnormalities, and tapering fingers. Herein we report a novel missense mutation in exon 7 at codon 180 in the RPS6KA3 gene in a boy with Coffin-Lowry syndrome.

Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.

We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagnosed by MRI which has not been reported in the literature. This novel phenotype differs from the reported cat eye syndromes by the absence of heart defects and the presence of brain anomalies.

Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern.

Frontonasal dysplasia (FND, also called frontonasal dysostosis or median cleft face syndrome) includes a spectrum of abnormalities affecting the eyes, forehead and nose, and resulting from midfacial dysraphia. The clinical picture is highly variable, but major findings in FND include ocular hypertelorism, a broad nasal root, median cleft affecting nose or both the nose and upper lip, and widow's peak. It is usually a sporadic disorder, although a few familial cases have been reported. We report here a three-generation family with multiple affected members with frontonasal dysplasia. This observation suggests autosomal dominant inheritance. Furthermore, some of the features e.g. over-riding toes, nail changes, vertical crease on plantar region of the feet in the index patient were not reported up to now.

Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray.

We report here a female fetus with anencephaly, omphalocele and unilateral radial aplasia. The combination of two of these three malformations were reported in a number of patients diagnosed as Gershoni-Barush syndrome, ORR phenotype, VATER association, Schisis association, OEIS complex, Schinzel phocomelia syndrome and Acalvaria but they have not been reported all together in the same patient up to date. We hypothesize that, some or all these syndromes given above may be related etiologically.

Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type.

We report here a case with microcephaly, preauricular pits, cleft lip-palate, hypertelorism, multiple frenula and preaxial polydactyly. The clinical picture overlaps with many syndromes, but it is mostly consistent with oral-facial-digital syndrome, Gabrielli type. There are no previously reported cases of this syndrome presenting also with microcephaly. On the other hand, it is hard to differentiate this clinical picture from Goldenhar syndrome (Oculo-auriculo-vertebral spectrum), and oculo-auriculo-fronto-nasal syndrome because of many overlapping features.

Azoospermia and cryptorchidism in a male with a de novo reciprocal t(Y;16) translocation.

An apparently balanced reciprocal translocation between the long arm of the Y chromosome and the long arm of the chromosome 16 t(Y;16)(q12;q13) is described in an infertile man with azoospermia and cryptorchidism. The patient was phenotypically normal and had bilateral inguinal hernia repair with orchidopexy at the age of 8 years. Histological examination of testicular biopsies revealed maturation arrest. Y/autosome translocations in the literature are relatively rare and mostly associated with infertility. To our knowledge, this is the sixth report about the reciprocal t(Y;16) translocation in the literature but the first presenting with cryptorchidism.

A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail.

We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly. A 30-year-old woman at 16 weeks of gestation with dichorionic twins was admitted to the hospital. Prenatal ultrasound demonstrated fusion of the lower limbs in one member and normal femurs, tibias and fibulas, and normal vertebras in the second twin, suggesting the diagnosis of sirenomelia. The twins were delivered vaginally at 35 weeks after spontaneous onset of labor. The affected newborn died after 24 hours and postnatal examination revealed unseparated lower limbs with extreme retroversion, bilateral pes equinus, unilateral postaxial polydactyly, a vestigial tail on the sacral region, a large and wide penis and anal atresia. There is only one previous report of sirenomelia with vestigial tail in the literature. However, a large, wide penis and polydactyly have not been reported before in association with this anomaly.

An infant with diaphragmatic hernia, anophthalmia and cardiac defect: evaluation by magnetic resonance imaging autopsy.

We present an infant with diaphragmatic hernia, anophthalmia and cardiac defect evaluated by magnetic resonance imaging (MRI) autopsy. This female infant was born at 39th weeks by vaginal delivery and presented with diaphragmatic hernia, anophthalmia, cardiac defect and died due to respiratory problems at 28th hours of life. MRI autopsy showed internal organ abnormalities including congenital hernia of the left diaphragm, secondary hypoplasia of the left lung, atrial and ventricular septal defect, dilatation of calices of the kidneys, bilateral anophthalmia, hypoplasia of the optic nerves, hyperintensity of pituitary gland possibly due to bleeding and a cyst of the septum pellucidum. This article shows that MRI autopsy is a valuable method for the evaluation of cases with congenital anomalies if autopsy is not possible.

Nephron-sparing surgery for renal cell carcinoma of the allograft after renal transplantation: report of two cases.

The risk of renal transplanation patients developing de novo malignancy is increased 100-fold compared with the healthy nontransplantation population. Renal cell carcinoma (RCC) arising from native kidneys is diagnosed among up to 4.6% of the renal transplant recipients as a consequence of immunosuppression. These tumors tend to behave more aggressively.(1) Although tumors occurring in allografted kidneys can be treated by partial (to save functional graft) or total nephrectomy, there is a paucity of data the outcomes. From 1978 to 2012, we performed 804 kidney transplantations including two cases in which RCC arose from the allografted kidney, both of which were treated with nephron-sparing surgery. The first patient has been followed for 30 months with a well functioning graft without an RCC recurrence. The second patient has returned to dialysis after 6 months due to an insufficient remnant nephron mass. In conclusion, nephron-sparing surgery is a novel alternative to total nephrectomy for allograft RCC. The remaining kidney can preserve function and the patient may not need chronic dialysis.