Charleen M. Moore

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)

Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of gestation because of abnormally large uterine size. Pertinent ultrasound findings included polyhydramnios, short limbs, abnormal position of hands, small thorax, and nonvisualization of the fetal stomach. Post-natally the infant was found to have a low birth weight, short birth length, contractures, short limbs, and a small thorax with upslanting ribs. Assisted ventilation and gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol. Initial cytogenetic studies demonstrated an apparently balanced de novo Robertsonian translocation involving chromosomes 14 and a karyotype designation of 45,XY,t(14q14q). No indication of mosaicism for trisomy 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in situ hybridization results demonstrated that the chromosome was dicentric. DNA analyses showed paternal uniparental isodisomy for chromosome 14. Based on the cytogenetic and DNA results a final karyotype designation of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14.

Human ferritin H and L sequences lie on ten different chromosomes

SummaryIn humans, the H (heavy) and L (light) chains of the iron-storage protein ferritin, are derived from multigene families. We have examined the chromosomal distribution of these H and L sequences by Southern analysis of hybrid cell DNA and by chrosomal in situ hybridization. Our results show that human ferritin H genes and related sequences are found on at least seven different chromosomes while L genes and related sequences are on at least three different chromosomes. Further, we have mapped the chromosomal location of expressed genes for human H and L ferritin chains and have found an H sequence which may be a useful marker for idiopathic hemochromatosis.

Distribution of chromosomal polymorphisms in three subspecies of squirrel monkeys (genus Saimiri)

The presence of nucleolar organizer regions (NORs) and C-band polymorphisms has been examined in three subspecies of squirrel monkeys, Saimiri sciureus sciureus, S. boliviensis boliviensis, and S. boliviensis peruviensis. Pericentric inversions in chromosomes 15 and 16 were also examined in the three groups. Chromosome 15 was acrocentric in S. s. sciureus and submetacentric in S.b. boliviensis and S.b. peruviensis. Chromosome 16 was acrocentric in S.s. sciureus and S.b. boliviensis while being submetacentric in S.b. peruviensis. There was a significant difference in the distribution of the C-band polymorphisms on chromosomes 5 and 14 in the three groups, as determined by Chi-square analysis, while no difference was observed in the distribution of the NOR polymorphism on chromosome 2. The NOR polymorphism and the interstitial C-band polymorphism of chromosome 14 were found in all three groups; the C-band polymorphism of chromosome 5 was found only in S.s. sciureus. Twelve pedigreed families were examined. Pedigree analyses were consistent with codominant inheritance of each polymorphism. The results of these cytogenetic studies in squirrel monkeys are pertinent to genetic management and research protocols.

Cytogenetic and fertility studies of a rheboon, rhesus macaque (Macaca mulatta) × baboon (Papio hamadryas) cross: further support for a single karyotype nomenclature

Historically, two different numbering systems have been used to describe the baboon and macaque karyotypes. However, G-banding studies and, more recently, fluorescence in situ hybridization results have shown that the two karyotypes are virtually identical. To confirm this hypothesis, cytogenetic analysis of an unusual animal, a rheboon, was undertaken. The rheboon reported here, an 18-year-old male, is the only long-term survivor of 26 pregnancies resulting from matings between female baboons (Papio hamadryas) and male rhesus macaques (Macaca mulatta). A G-banded karyotype was prepared from the rheboon and compared with the karyotypes of the two parental species. Spectral karyotyping (SKY) was carried out on the rheboon chromosomes, and the results were compared with SKY studies reported for the baboon and with CISS (chromosome in situ suppression) studies in the rhesus macaque. No differences were detected in any of the rheboons pairs of autosomes, reinforcing the apparent identity of the two parental karyotypes. Based on these results, we argue that a single karyotyping system should be adopted for the two species. Fertility studies were initiated to determine if the rheboon is sterile, as are most hybrid animals. Two semen ejaculates were devoid of sperm. A testicular biopsy revealed hypoplasia of the seminiferous tubules with few Leydig cells and large lumena. Meiotic arrest occurred during meiosis I, resulting in absence of mature spermatozoa. Thus, the testicular and meiotic findings in the rheboon were similar to those observed in other hybrids, even though the parental karyotypes appear identical.

Spontaneous ovarian tumors in twelve baboons: a review of ovarian neoplasms in non‐human primates

Abstract: Twelve spontaneous ovarian tumors were found in the Southwest Foundation for Biomedical Research baboon colony. These included four granulosa cell tumors, three teratomas, two endometrioid carcinomas, one seromucinous cystadenofibroma, a cystic papillary adenocarcinoma, and an ovarian carcinoma. Age was a pre‐disposing factor. With one exception, the tumors of surface epithelial‐ and sex cord‐stromal origin occurred in baboons over 17 years of age. The exceptional animal was 7 years of age when a malignant granulosa cell tumor with Sertoli cell differentiation was identified. The two endometrioid tumors, which were found in 17‐ and 30‐year‐old animals, were both associated with endometriosis. In contrast, the teratomas, which are tumors of germ cell origin, were found in younger animals, i.e. 17 years of age or younger. One case of an ovarian carcinoma with metastases was observed in a 6‐month‐old infant. Cases of spontaneous ovarian tumors from the literature are reviewed.

The baboon model (Papio hamadryas) of fetal loss: maternal weight, age, reproductive history and pregnancy outcome.

Background  Several risk factors are associated with the incidence of human stillbirths. The prevention of stillbirths in women is a pressing clinical problem.

Localization of the haptoglobin α and β genes (HPA and HPB) to human chromosome 16q22 by in situ hybridization

Human haptoglobin (Hp) is a protein that binds free hemoglobin and circulates in plasma of vertebrates as a tetrachain (αβ)2 structure. This study maps HPA and H

Chromosomal localization of human lactotransferrin gene (LTF) by in situ hybridization

Lactotransferrin (LTF) is an important member of the transferrin family of proteins. These proteins play an essential role in the transport of iron in extracellular fluid (Aisen and Listowsky, 1980). Southern blot analysis of mouse-human somatic cell hybrids have localized the LTF gene to region q21----qter of human chromosome 3 (Teng et al., unpublished data). Using the same full-length mouse cDNA probe (2.2 kb), the LTF gene was mapped to human chromosomal bands 3q21----q23 by in situ hybridization. The sublocalization of the LTF gene to 3q21----q23 is in the region of human chromosome 3 where the gene loci of transferrin and transferrin receptor have been localized (Yang et al., 1984; van de Rijn et al., 1983).

Second 46,XX male with MLS syndrome

We report on a second 46,XX male with microphthalmia with linear skin defects (MLS) syndrome. In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula, and agenesis of corpus callosum with colpocephaly. Biopsy of a linear streak showed smooth muscle hamartomata rather than the presumed dermal aplasia. Detailed ophthalmologic examination did not show retinal lacunae typical of Aicardi syndrome. DNA studies with distal Xp specific probes indicated a deletion in one X chromosome and fluorescence in situ hybridization (FISH) studies with X- and Y-specific probes demonstrated the presence of a derivative X chromosome from an X;Y translocation.

cDNA Sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase

A cDNA clone of the argininosuccinate lyase gene (ASL) was isolated from an adult human liver library by probing with synthetic oligonucleotide probes. This clone and a yeast genomic DNA fragment containing the ASL gene were sequenced using the M13-dideoxynucleotide method. Comparison of the yeast and human clones at the nucleotide and putative amino acid sequence levels indicated identities of 50 and 54%, respectively. The most conserved region of the yeast gene was used to detect human clones in the liver cDNA library to test phylogenetic screening capabilities of conserved genes. ASL was mapped to human chromosome 7pter----q22 using human-mouse somatic cell hybrid DNA and further mapped by in situ hybridization to chromosome 7cen----q11.2 on human metaphase chromosomes. The probe also detected a sequence on chromosome 22. Somatic cell hybrid DNA digested with PvuII revealed a mouse polymorphism between Balb/c and C3H mice in the ASL gene.