Abstract Objective: The client presents with partial deletion of chromosome 18q and duplication 18p, occurring in 1 55,000 individuals less than 1,000,000 individuals, respectively. Deletions are often characterized by hypotonia, seizures, psychomotor retardation, intellectual disability. Duplications 18p disability, epilepsy, developmental delay, attention deficits. Method: is a 5-year-old mal...

The prevalence of malocclusion in 32 Turner syndrome patients, age 7-16.7 years, was investigated. The sample was subdivided according to karyotype, and 72 normal girls, aged 7.1-16.1 years, served as controls. Compared with normal girls overjet did not differ significantly while overbite was significantly reduced in 45X patients. The prevalence of distal molar occlusion, anterior and lateral o...

Objective Holoprosencephaly (HPE) is the most common forebrain developmental anomaly in humans with prevalence of 1/ 16, 000 in live borns that results from a failure of prosencepholon cleavage. In most of the cases, due to defective primordial mesenchyme, facial anomalies are observed like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitar...

We present a girl with del(18p) syndrome and a single maxillary central incisor; she is only the second patient in whom this association has been reported. Del(18p) syndrome results from deletion of all or part of the short arm of chromosome 18 and is probably the second most frequent autosomal deletion syndrome. It is associated with a recognisable clinical phenotype, which includes some degre...

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced transloc...

A 17-year old female has been referred for karyotyping and genetic counseling. Proband had primary amenorrhea, short stature and poorly developed secondary sexual characteristics. Ultrasound scanning showed hypoplastic uterus and gonadal dysgensis. Chromosomal analysis revealed the mosaic status for the isochromosome formation in the long arm of X, i(Xq). Proband had 3 cell lines. Her karyotype...

Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a ...

Although as a group, embryonal central nervous system tumors share a common background of primitive round cells, numerous distinctive histologic features allow for further subclassification. One tumor with a unique microscopic appearance is the recently described pediatric neuroblastic tumor with abundant neuropil and true rosettes (PNTANTR). We report 2 additional cases of this unusual tumor; ...

A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is o...