Endometriosis has a genetic component, and significant linkage has been found to a region on chromosome 10q. Two candidate genes, EMX2 and PTEN, implicated in both endometriosis and endometrial cancer, lie on chromosome 10q. We hypothesized that variation in EMX2 and/or PTEN could contribute to the risk of endometriosis and may account for some of the linkage signal on 10q. We genotyped single ...

The T-cell receptor (TCR) alpha/delta chain locus on chromosome 14q11 is nonrandomly involved in translocations and inversions in human T-cell neoplasms. We have analyzed three acute T-lymphoblastic leukemia samples carrying a t(10;14)(q24;q11) chromosome translocation by means of somatic cell hybrids and molecular cloning. In all cases studied the translocation splits the TCR delta chain locus...

background: here we describe a new case of partial distal 10q trisomy in a 6-year-old iranian girl from healthy parents with mental, growth, and psychomotor retardations. methods: additional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, and a...

EDITOR—Duplication of proximal segments of the long arm of chromosome 10 is rare and results in a pattern of malformations and dysmorphic features that are distinct from those of the more common distal 10q trisomy syndrome. To our knowledge, only nine patients with proximal 10q trisomy have been documented. Well defined clinical features of proximal 10q trisomy syndrome are growth and developme...

A multistep genetic model of tumorigenesis, based on genetic alterations in benign and primary malignant lesions, has been proposed for neoplasms such as colonic carcinoma. However, evidence for a similar genetic progression in melanoma has relied heavily on findings in cultured lesions or metastases. We have investigated every autosomal arm for loss of heterozygosity in 41 primary cutaneous me...

EDITOR—Duplication of proximal segments of the long arm of chromosome 10 is rare and results in a pattern of malformations and dysmorphic features that are distinct from those of the more common distal 10q trisomy syndrome. To our knowledge, only nine patients with proximal 10q trisomy have been documented. Well defined clinical features of proximal 10q trisomy syndrome are growth and developme...

The deleted in malignant brain tumors 1 (DMBT1) gene on 10q25-26 is a candidate tumor suppressor gene in malignant gliomas, but its role is controversial, e.g., some DMBT1 homozygous deletions reflect unmasking of constitutional deletion polymorphisms by 10q loss. To clarify the role of DMBT1 in gliomagenesis, we investigated three reported deletion hot spots. Homozygous deletions at DMBT1 repe...

BACKGROUND Two forms of familial temporal lobe epilepsy (FTLE) have been described: mesial FTLE and FTLE with auditory auras. The gene responsible for mesial FTLE has not been mapped yet, whereas mutations in the LGI1 (leucine-rich, glioma-inactivated 1) gene, localized on chromosome 10q, have been found in FTLE with auditory auras. OBJECTIVE To describe magnetic resonance imaging (MRI) findi...

Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosomes 1 and X excluded a t(X;1) translocation, but failed to detect a second translocation chromosome...