Partial trisomy 17q and monosomy 9p due to a familial translocation.

Described is an infant with partial trisomy 17q and monosomy 9p [46,XX,-9,+der(9)t(9;17)(p21;q23)] due to adjacent-1 segregation of a maternal balanced reciprocal translocation. Characteristic clinical features of both partial 17q trisomy and monosomy 9p are present, but the former syndrome is less recognisable in this infant than in previously reported cases due to the concomitant 9p monosomy.     

The dermatoglyphics of American Negroes

Digital and palmar dermatoglyphics of 184 male and 224 female normal American Negroes were evaluated for digital patterns, digital ridge counts, palmar patterns, palmar main line terminations, accessory triradii and palmar creases. All subjects were seven year olds examined and found free of chronic or other genetic diseases. The results were presented for the left and right hand for the most part comparable to those of the African and other American Negro groups reported earlier. The distributions of the various dermatoglyphic features among the Negroes taken as a group were compared to those of the other racial groups and their differences were discussed.     

台湾闽南汉人肤纹学研究

本文报导台湾闽南汉人的肤纹参数,样本包括100名男性和100名女性。研究的项目有TFRC、a-b RC、atd、tPD、指纹、指间纹、手大小鱼际、猿线、指三角等,并且还分析了同名指指纹对应的情况,见到非随机组合的现象。这是对闽南汉人肤纹较详尽的调查,为人类学、遗传学和医学等提供了较完整的肤纹数据。     

9;21相互易位携带者生育多例9p部分三体患者细胞遗传学分析

在河南南阳收集到一个家系4代23人, 其中6人患先天性智力障碍, 具有轻度的面部和小母指畸形等特点, 先证者伴随有癫痫的发生。采用常规的外周血培养染色体G带分析, 发现先证者的核型为：46, XY, der(21) t(9; 21) (9p22.2; 21q22.3)pat, 是部分9p三体。对该家系其他成员的染色体进行分析, 发现所有患者均为部分9p三体, 异常染色体均来自9号与21号染色体平衡易位携带者染色体相互易位的异常分离, 因此这是一个部分9p三体综合征家系。而重复区段发生在9号染色体短臂远端一半区域(9pter→9p21)内, 该区是关键区, 导致智力障碍和面容轻微畸形。     

Partial trisomy 8q and partial monosomy 18p: a case report

We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.     

Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation

We report a 15 month old boy with prominent metopic suture, epicanthal folds, strabismus, low-set ears, microretrognathia, large anterior fontanel, bilateral simian creases, muscular hypotonia, and severe psychomotor retardation. He also had West syndrome. An electroencephalogram showed hypsarrythmia, and cranial MR indicated a myelinisation delay. Standard karyotyping showed additional material on one chromosome 9p. Using FISH, a terminal 7q duplication spanning 26 Mb in size and a terminal 9p deletion sized (at least) 9.1 Mb were identified. The father had a karyotype of t(7;9)(q33;p23) and the mother's karyotype was normal. The boy presented typical facial features of the distal 7q duplication syndrome but no genital anomalies attributable to his distal 9p deletion. We assume that the severe epilepsy is likely due to the trisomy 7q.     

Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.

A female patient with mosaicism for partial monosomy 8p and partial trisomy 8p is presented. Her karyotype is 46,XX, del(8)(p21)/46,XX, dup(8)(p21----pter). She showed minimal dysmorphic features, agenesis of the corpus callosum and moderate developmental delay. There is no previous report of mosaicism for partial monosomy and partial trisomy 8p. The clinical findings in the presently described patient are less severe than those reported in cases with only monosomy or trisomy of the distal part of chromosome 8.     

山西上党地区汉族肤纹研究

报道中国中原山西省上党地区汉族群体肤纹模式样本的参数。样本包括500名男性和500名女性。技术分类用《ADA标准-CDA版本》, 项目参数用《CDA标准》。分析了指纹总嵴线数(TFRC)、指三角a和b间嵴线数(a-bRC)、手掌轴三角t到指三角a和d角度(atd)、轴三角t百分距离(tPD)、指纹、指间纹、手大小鱼际、猿线、指三角等项目的二级模式样本。还分析了同名指指纹对应的情况,非随机组合的现象。山西东南部自古称为"上党", 地处黄河流域中下游广大的中原地带的中心区域,在远古时期就有原始人类聚集生息, 是中华民族发祥地之一, 是研究中原汉族肤纹参数的较具代表性地域。我们建立中原汉族肤纹的模式样本, 为体质人类学等学科研究提供较完整的资料。     

Dermatoglyphics in turner syndrome

Finger and Palmar dermatoglyphics in 25 karyotypically proven cases of Turner syndrome representing Northwestern region of India are presented and compared with those obtained on their 102 normal female counterparts. Predominance of ulnar loops over other patterns was recorded in turner patients. Mean total finger ridge count in Turner syndrome (147.4) remained higher than the normal females (121.1). c-d interdigital ridge count in turners remained significantly (p≤0.05) higher than their normal female counter-parts. In contrast to their western counterparts distal placement of axial triradius in both the palms of none of the Turner syndrome patients representing the current series was recorded. Occurrence of whorls and arches in hypothenar region of 12% and 4% was respectively noticed in right palm of patients. The use of distinctive dermatoglyphic features recorded amongst Turner syndrome patients representing this study may be made to corroborate diagnosis of this entity in settings where facilities to carry out karyotyping do not exist.     

Types and combinations of axial triradii among the 20 Dhangar castes of Maharashtra,India

Bilateral palmar prints of 3000 males belonging to 20 endogamous Dhangar castes of Maharashtra, India, have been analysed for types and combinations of axial triradii after Cummins and Midlo (1943). Altogether 17 types of axial triradii were found among the Dhangars, but only typest, t′, tt″ occur in appreciable frequencies. The magnitude of intercaste differentiation in respect to axial triradii is considerably low; only 13 caste-pairs (6.84%) out of 190 pairs showed significant difference at the 5% level. Compared to several other palmar elements, like palmar true patterns, main line terminations, palmar flexion creases, the axial triradius has a considerably low level of differentiation among these nomadic, seminomadic and settled Dhangar castes. This suggests that the axial triradii are perhaps more stable compared to many other palmar elements. These results need to be confirmed by data from other populations.     

Dermatoglyphics in juvenile hypertension.

Dermatoglyphics of 172 children and young adults (116 males, 56 females) with hypertension, 13-27 years old, were compared with those of 130 healthy male and 110 female controls. Several differences were observed between the two groups. Hypertensive patients had a somewhat lower frequency of fingertip ulnar loops, higher frequency whorls and a higher total finger ridge count. They also had a somewhat higher mean atd angle, significantly more frequent distal position of the axial triradius (mostly in t' position) and more missing axial triradii compared to controls. The differences between a-b ridge counts, the interdigital, thenar and hypothenar patterns were generally small and sometimes limited to one sex or one hand only. The observed differences seem to indicate a genetic influence in the etiology of essential hypertension.     

An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature

We report a male patient with a karyotype of 46,XY, der(4)t(1;4)(q42.1;q35.1) inherited from a maternal balanced translocation involving chromosome 1q and 4q. The boy had corpus callosum dysgenesis, laryngomalacia, tracheobronchus, facial dysmorphism, simian creases, and developmental retardation. The first three features are unique compared to previous literature reports on distal partial trisomy 1q. This case report allows a further delineation of the distal partial trisomy 1q syndrome.     

A dermatoglyphic study of the Amis aboriginal population of Taiwan

Amis is the largest aboriginal population in Taiwan. The previous dermatoglyphic studies of the Amis only reported limited data. In this study, we collected and analyzed the dermatoglyphs of 200 Amis individuals, and we reported a wide range of dermatoglyphic variables including total finger ridge count, a-b ridge count, atd angle, axial triradius percent distance, and frequencies of fingerprint pattern, palmar thenar pattern, palmar interdigital pattern, and simian line. This study is the first comprehensive dermatoglyphic research of Amis since 1960s, and its dermatoglyphic data will be useful for future research in anthropology, genetics and medicine.     

A dermatoglyphic study of the Kavalan aboriginal population of Taiwan

By the 1970s, a number of dermatoglyphic studies of Taiwan aborigines (Gaoshan nationality) had been published, however in each only a few dermatoglyphic variables were addressed. Since that time, little new research has been conducted. In this study, we collected and analyzed the dermatoglyphs of 100 individuals of Kavalan, a Taiwan aboriginal population, and we reported a wide range of dermatoglyphic variables including total finger ridge count (TFRC), a-b total ridge count (a-b RC), atd angle and axial triradius percent distance (tPD), and frequencies of fingerprint pattern, palmar thenar pattern, palmar interdigital pattern, palmar hypothenar pattern, and simian line. This study is the first comprehensive dermatoglyphic research of any Taiwan aboriginal population.     

A dermatoglyphic study of the Kavalan aboriginal population of Taiwan

By the 1970s, a number of dermatoglyphic studies of Taiwan aborigines (Gaoshan nationality) had been published, however in each only a few dermatoglyphic variables were addressed. Since that time, little new research has been conducted. In this study, we collected and analyzed the dermatoglyphs of 100 individuals of Kavalan, a Taiwan aboriginal population, and we reported a wide range of dermatoglyphic variables including total finger ridge count (TFRC), a-b total ridge count (a-b RC), atd angle and axial triradius percent distance (tPD), and frequencies of fingerprint pattern, palmar thenar pattern, palmar interdigital pattern, palmar hypothenar pattern, and simian line. This study is the first comprehensive dermatoglyphic research of any Taiwan aboriginal population.     

Hand dermatoglyphics in trisomy 4p

Summary A dermatoglyphic analysis of the hands of 16 patients with trisomy for the short arm of chromosome 4 has revealed an increased frequency of whorl patterns on fingertips, presence of axial triradii in position t on palms and an increase of the main line index.Although of little diagnostic value these changes must be included in the constellation of major signs which characterize the 4p trisomy syndrome.     

A family study of dermatoglyphic traits in India: resolution of genetic and uterine environmental effects for palmar pattern ridge counts

The inheritance of palmar pattern ridge counts for individual palmar areas, combined distal areas, and all ten areas combined was investigated in families belonging to two strictly endogamous Brahmin castes of peninsular India. Ridge count phenotypes were obtained by the method proposed by Malhotra et al. (1981a), however, zero observations (indicating patterns not circumscribed by triradii) were excluded from analysis. Path analytic methods were applied in order to determine the relative influences of polygenes, intrauterine environment, and residual environment. The proportion of genetic variation was, in general, consistently greater in one population than the other, and significant intrauterine environmental effects were detected for the population with lower heritabilities. The results of this investigation suggest that a simple polygenic model may not be sufficient to explain the inheritance of ridge counts in the interdigital IV configurational area. Distal pattern ridge counts do not appear to be influenced by more or less uterine environmental effects than all areas considered together. The proportion of genetic variation for the total palmar pattern ridge count was 52% in both populations.     

Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:).

A 15-month-old male with a partial monosomy 9p is reported. The comparative analysis with other cases of 9p monosomy demonstrates a typical phenotype which when compared to that of 9p trisomy, permits the delineation of fifteen "type and contretype" signs.     

Phenotypic and cytogenetic spectrum of 9p trisomy

Trisomy 9p is one of the most frequent autosomal anomalies compatible with long survival rate. The spectrum of clinical severity in trisomy 9 roughly correlates with the extent of trisomic chromosome material. Trisomy 9p is a clinically well delineated syndrome and of all stigmata craniofacial dysmorphism is most specific. In this study we report five cases with de novo trisomy 9p. The study aimed at the identification of the genotype/phenotype correlations in patients with different breakpoints. GTG banding, DAPI stain, whole chromosome paint, centromere, telomere and 9p21 specific locus probes demonstrated that partial trisomy 9p in case 1 was due to isochromosome 9p with translocation of the long arm of re-arranged chromosome 9 onto the short arm of chromosome 13, cases 2 and 3 had intrachromosomal duplication of the short arm of chromosome 9 [dup(9)(p21p24)], case 4 had "classical" 9p trisomy and case 5 had duplication of whole short arm and part of the long arm of chromosome 9 (partial 9 trisomy). Although cases 1 to 4 had trisomy involving 9p, cases 1 and 2 exhibited the classical clinical manifestations of 9p trisomy, while cases 3 and 4 had additional features overlapping with Coffin-Siris syndrome. The present study strengthens the association of Coffin-Siris syndrome and 9p, the significance of such observations may point to possible gene location of Coffin-Siris syndrome on 9p. Case 5 had additional manifestations more than those typical of trisomy 9p which could be due to duplication of 9q21 region. Wide gap between 1st and 2nd toes, observed in the studied cases, can be added to the phenotype of this trisomy. Three of our cases had brain malformations, case 3 had dilated ventricles with hypogenesis of corpus callosum, case 4 had agenesis of corpus callosum, and case 5 had Dandy-Walker malformation. We also suggest that dosage effects of genes located in 9pter-q22 contribute to the etiology of Dandy-Walker syndrome. We recommend MRI studies as a routine in all cases with trisomy 9p.     

Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex-reversal

A 26-year-old girl with multiple congenital malformations, sex-reversal, and partial trisomy 3p/monosomy 9p is described. A possible influence of autosome aberrations on sexual differentiation is discussed.