Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype?

Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders characterized by hypoplasia and atrophy of the cerebellar cortex, dentate and pontine nuclei, and inferior olives. Lineer nevoid hyperpigmentation is a rare skin condition characterized by whorls and streaks of hyperpigmented macules in a reticulate pattern along Blaschko's lines. Herein we present a three year-old male patient with pontocerebellar hypoplasia associated with nevoid hyperpigmentation on the upper part of the body. Besides he has some dysmorphic features including microcephaly, triangular chin, long philtrum, long hand fingers, flexion contracture in all of the distal phalanges of both hands, and strabismus.

Ring chromosome 18 in a child with febrile seizures.

Ring chromosomes are uncommon cytogenetic findings but have meanwhile been reported for nearly all human chromosomes. Among the rare observations of ring chromosomes in man, the diagnosis of ring chromosome 18 represents a prominent group. We here describe on the cytogenetic analysis results obtained for a 9 years old male patient of non-consanguineous parents. He had growth and developmental delay, mental and motor retardation, microcephaly, microphtalmia, triangle face, small dysplastic ears, strabismus, epicanthal folds on the left, short stature, cryptorchidism, spasticity, pes equinovarus, pes planus, hypothroidism, stereotypic movements and febrile seizures. Also he had hypomyelinization and multiple hyperintense focuses within the white matter on the MRI. The generalized epileptiform abnormality originated from bilateral Centroparietal region. The metabolic investigations including blood and urine amino acids and lysosomal screening tests were normal. The chromosome analysis identified [46,XY,r(18)/46,XY] in 35% of cells a ring 18 and in 65% of cells normal karyotype in peripheral blood cells examined by standard G-bands by Trypsin using Giemsa (GTG) analysis. The dysmorphic features of the presented patient are discussed to the identification of the genotype-phenotype correlation related to his karyotype.

Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.

Monilethrix, a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis, is caused by mutations in three type II hair cortex keratins. The human keratin family comprises 54 members, 28 type I and 26 type II. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. In our study, Monilethrix was diagnosed on the basis of clinical characteristics and microscopic examination in a family with 11 affected members. Haplotype analysis was performed by three Simple Tandem Repeat markers (STR) and KRT86 gene was sequenced for the identification of the disease causing mutation. In the results of this, autosomal dominant mutation (E402K) in exon 7 of KRT86 gene was identified as a cause of Moniltherix in the large family from Turkey.

Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies.

Detection of an unbalanced t(4;15) by FISH in a child with multiple congenital anomalies: In this report, we present the clinical history and findings in a 6-month-old male with multiple congenital anomalies, developmental delay, and an initial male karyotype with 4q+. The origin of the additional segment on 4q was unequivocally established by fluorescence in situ hybridization (FISH). Whole chromosome probe for chromosome 4 and chromosome 15-specific a-satellite probe were used. The karyotype was demonstrated to be 46,XY,der(4), t(4;15)(q35;?),inv(9)(p13q13). To the best of our knowledge the above cytogenetic abnormalities with these clinical findings have not been described previously. This case further demonstrates the advantage of FISH in the identification of anomalous chromosome regions and breakpoints.

Fuhrmann syndrome associated with cortical dysplasia.

We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs, hypospadias, inguinal hernia and cortical dysplasia in a consanguineous Turkish Family. The MCA syndrome in the present patient is similar to these reported in 3 affected sibling by Fuhrmann et al.

Frequency of cardiovascular and gastrointestinal malformations, leukemia and hypothyroidism in children with Down syndrome in Trabzon, Turkey.

This study was carried out to determine the frequency of congenital heart defects, cholelithiasis, hypothyroidism and leukemia in 31 children with Down syndrome. Twenty children (71.4%) had congenital heart defects. Ultrasonography was performed on 29 and two of these (6.9%) had cholelithiasis. Tests for hypothyroidism in 24 children identified hypothyroidism in three (12.5%). Leukemia was diagnosed in three children (10%) (one with congenital, two acquired). One patient with congenital hypothyroidism underwent surgery on the third day of life because of annular pancreas and duodenal atresia.

A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome.

We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and del(21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature.

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2.