We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy, but with an unusual type of trisomy 18p: 47,XX,del(18)(pter-*pll.21),+i(18p) de novo. The older sister has microcephaly, mental retardation, an asymmetrical and peculiar face with low set ears, pinched up nose, high arched palate, small mouth, micrognathia, tapering fingers, asymmetrical length of legs, and an asthenic body. The younger sister was stillborn with extensive defects of the skull, congenital hydrocephalus, severe facial anomalies, and lumbosacral meningocele. Both daughters have inherited one normal chromosome 18 and an isochromosome 18p from their mother, and one normal chromosome 18 from their father. Although one quite similar family has been reported, to the best of our knowledge there have been no reports of families in which two daughters with tetrasomy 18p syndrome have been born to a mother with trisomy 18p with isochromosomes. Based on a comparative analysis of 18 cases, Rivera et all concluded that tetrasomy 18p constitutes a clinically and cyto enetically recognisable syndrome. Fryns et al gave further support to the existence of such a clinical entity. We present a family in which two daughters with tetrasomy 18p were born to a mother with de novo trisomy 18p. Case reports Case 1, a 27 month old female, was born at 37 weeks' gestation, with a birth weight of 2045 g. She showed marked psychomotor retardation. Physical examination at this age showed height 81-5 cm (-1.76 SD), weight 9-0 kg (-2.33 SD), head circum
ABSTRACT:In Pinus , Subgenus Pinus 16 species were investigated on their somatic chromosomes by a fluorescent banding technique using chromomycin A 3 (CMA) and 4',6-diamidino-2-phenylindole (DAPI). The chromosome number of 2n=24 was commonly counted in all the species studied. Their karyotypes were composed of many long metacentric chromosomes and a few short submetacentric chromosomes, and two karyotypes were recognized in respect to number of short chromosomes in the subgenus. CMA-bands appeared at an interstitial and/or proximal region of chromosomes and DAPI-band did at a proximal region. Thin DAPI-bands appeared at interstitial regions and DAPI-dots appeared at a centromeric region in most chromosomes. In a chromosome complement each homologous chromosome was identified on the base of its shape and fluorescent banding pattern. The typical banding patterns were compared among the species studied. Many interstitial CMA-bands at the secondary constrictions appeared on many metacentric chromosomes. Proximal fluorescent bands varied in fluorescent nature and number and divided into several groups. Section Pinus short three chromosome pairs were two or three patterns of fluorescent banding. The section Trifolae species had many proximal DAPI-bands and less proximal CMA-bands than section Pinus. The shortest chromosome had proximal bands indicating two groups on the kinds of fluorescent band.
Somatic chromosomes of seven taxa of Asian haploxylon pines, Pinus armandii var. amamiana, P. armandii var. armandii, P. parviflora, P. pumila, P. x hakkodensis, P. koraiensis and P. bungeana, and a American species of P. edulis were observed by a fluorescent banding method using chromomycin A 3 (CMA) and 4',6-diamidino-2-phenylindole (DAPI). The chromosome number of all taxa was 2n=24 and their karyotypes were composed of 22 long metacentric chromosomes and two short heterobrachial chromosomes as previous reports. CMA-bands appeared at the interstitial region and not at the proximal region of metacentric chromosomes. Interstitial CMA-bands were observed on 16-18 long metacentric chromosomes in chromosome complement of most species excepting for P. bungeana having six interstitial CMA-bands. The short chromosomes of most species have an interstitial CMA-band on their long arms and that of P. edulis had a proximal CMA-band. Clear proximal CMA-or DAPI-bands appeared in most species of subgenus Pinus were not observed in species of subgenus Strobus examined. DAPI-dots appeared at centromeric regions of all chromosomes and many thin DAPI-bands did at interstitial regions as appeared in the species of subgenus Pinus. The karyotype analysis combined with CMA-and DABI-bandings was useful for identification of each homologous chromosome and for chromosomal relationship among species in haploxylon pines.
We attempted to obtain an epitaxial MnSiγ (γ∼1.7) film on R-sapphire, i.e., Sapphire(1102), substrate by pulsed laser deposition. We prepared MnSiγ films by changing the substrate temperature gradient. It was found that the MnSiγ film, whose temperature gradient in a substrate is parallel to Sapphire[1120], could be grown epitaxially on the substrate. The epitaxial relationship was MnSiγ(1000)[0010] ∥ Sapphire(1102)[1120]. The thermoelectric properties of the epitaxial MnSiγ film were different in the a- and c-axes, reflecting the anisotropic MnSiγ crystal structure. The anisotropic thermoelectric properties are discussed in terms of the electronic structure.
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