Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 7: Dermatoglyphic peculiarities of females with cervical and endometrial carcinoma.

This study was carried out to evaluate the effects of neoplastic diseases like carcinoma of the cervix and endometrial carcinoma, and was based on dermatoglyphic traits and their indices of intraindividual diversity (Div), fluctuating asymmetry (FIA) and directional asymmetry (DA). The results were compared with control groups of women and men, whose data have been detailed in our previous publications (Kobyliansky et al., 1999 a-d), and with analogous data of additional cancer groups available in the literature, like acute leukemia, bronchial cancer and breast cancer.

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 4: Dermatoglyphic peculiarities of males and females with Down syndrome. Family study.

The present study was carried out in order to evaluate the effect of chromosomal morbidity (trisomy 21) in males and females with Down's Syndrome (DS) based on dermatoglyphic traits (DT) and their indices of diversity and asymmetry. The results were compared between parents and control groups of women and men whose data are detailed in our publication (Kobyliansky et al. 1999).

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 6: Dermatoglyphic peculiarities of males and females with cleft lip (with or without cleft palate) and cleft palate--family study.

The present study was carried out to evaluate the effect of polygenic morbidity with respect to Cleft Palate and Cleft Lip with or without Cleft Palate (CL) in males and females based on dermatoglyphic traits (DT) and indices of intraindividual diversity (Div), fluctuating (FA) and directional (DA) asymmetry. The main objectives of the present study were as follows: a) to find DT and FA indices, which could be "marker" traits and could indicate the degree of developmental instability of the organism; b) to explore the possibility of using DT, FA, Div and DA indices of CL patients and their parents and to predict the likelihood of the disease appearing in the offsprings of apparently healthy individuals. The samples were of 106 CL patients (59 males and 47 females) and 156 of their parents (67 fathers and 89 mothers), all Israeli Jews.

Perceived personal control (PPC): a new concept in measuring outcome of genetic counseling.

Many researchers have tried to establish criteria for the evaluation of genetic counseling and the assessment of its success. Most studies focused on counseling outcomes mainly educational and reproductive variables. In the present study we introduced the concept of "perceived personal control" (PPC), which captures a wider and more meaningful range of effects of genetic counseling.

t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.

Two sibs, carriers of unbalanced products of the translocation t(15;21)(q15;q22.1) pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.

Oligodontia, short stature and small head circumference with normal intelligence.

Complete absence of third molars and mandibular permanent second molars is reported in a 19-year-old female, with occipito-frontal head circumference and height at the 3rd centile. The patient's intelligence, appearance and physical examination were normal. Direct count of the patient's sweat pores in different areas of the palms and digits was normal.

Dermatoglyphics in Darier's disease.

Background: Darier's disease is an acantholytic dyskeratotic genodermatosis with autosomal dominant inheritance. A predictive diagnostic marker for this disorder would be beneficial because of the relatively late onset and the large number of sporadic cases of the disease. The dermatoglyphic features of patients with Darier's disease were examined to determine whether they have a common pattern.

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest.

New form of postaxial acrofacial dysostosis?

We report on a 2-month-old Sephardic Jewish girl with bilateral and symmetrical deficiency of the fifth digital rays of all 4 limbs, combined with severe deformations and other malformations of the limbs. These findings were associated with orofacial malformations, as well as with visceral anomalies differing from those found in other postaxial deficiency syndromes. Parents were closely consanguineous.

Fetal lateral ventricle choroid plexus cysts: the dilemma of amniocentesis.

Although lateral ventricle choroid plexus cysts in the second-trimester fetus have been considered a benign developmental phenomenon of no clinical significance, an association with trisomy 18 has been suggested. We designed a prospective study to determine whether karyotype analysis is indicated when such cysts are encountered on prenatal sonogram. During a 20-month period, 5400 low-risk pregnant women were examined sonographically in the second trimester to evaluate the prevalence of fetal lateral ventricle choroid plexus cysts and the incidence of ultrasonographic anomalies associated with such cysts in fetuses with trisomy 18 referred from cytogenetic laboratories.

X-linked mental retardation with bilateral clasped thumbs: report of another affected family.

A Sephardi Jewish family is reported in which the two brothers had mental retardation, lower limb spasticity and bilateral clasped thumbs anomaly. This X-linked recessive disorder has only been reported twice. We believe this syndrome comprises a distinct entity among the X-linked mental retardation syndromes.

Concordance of auriculo-cardiovascular-skeletal malformations: a new malformation complex in an infant of a diabetic mother?

The incidence of malformations among infants of diabetic mothers (IDM) is known to be higher than in the general population. These malformations usually involve several organ systems and in the past few years there has been an attempt to group them into distinct "syndromes." The present report concerns a child with a specific constellation of findings not yet reported in the infant of a diabetic mother, and we urge our colleagues to look for other associations existing in these infants, rather than just listing series of individual malformations.

Interstitial deletion 2q14q21.

A girl with multiple congenital anomalies and a tendency to severe pyogenic infections was found to have an interstitial deletion of chromosome band 2q14----q21. Unusual facial manifestations included enophthalmos, long philtrum, micrognathia, narrow forehead, prominent glabella, and depressed nasal bridge. Unilateral corneal clouding, with Peters-like anomaly; agenesis of the corpus callosum; brain atrophy; and heart, kidney, hand, and dermatoglyphic anomalies were additional findings.

Newly recognized ectrodactyly/deafness syndrome.

A 7-year-old non-Ashkenazi Jewish girl is described having asymmetrical ectrodactyly (split hand and foot deformity), short stature, mental retardation, sensorineural deafness, and abnormal facies. Because this constellation of findings has not been reported previously, the authors believe that this represents a new congenital malformation syndrome, most probably of genetic etiology.

Transcervical chorionic villi sampling: a comparison between the silver cannula and the Portex catheter.

The Portex catheter and the silver cannula are two of the most widely used biopsy devices for chorionic villus sampling. In a prospective randomized study we used these two devices alternatively in 168 women. Significantly more trophoblastic tissue was obtained with the silver cannula than with the Portex catheter (p less than 0.

New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.

We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,-1,+der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1.

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.

Amniotic fluid alpha-fetoprotein levels and fetal chromosomal abnormalities.

406 midtrimester amniotic fluid samples were examined for alpha-fetoprotein (AFP) levels and fetal karyotyping. 44 cases with Down syndrome, 12 with Klinefelter syndrome and 14 with other chromosomal abnormalities were diagnosed. The AFP levels were below the median value for the normal pregnancies in 38 of the 44 Down syndrome-affected fetuses.

The facio-audio-symphalangism syndrome: report of a case and review of the literature.

A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome. The reasons for suggesting this new descriptive term are given, along with a review of the literature.

A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges.

A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.

Down's syndrome in twins of unlike sex.

The occurrence of Down's syndrome in both dizygotic twins appears to be very rare. A case of twins of unlike sex is reported, in which chromosomal analysis showed trisomy 21 in both of them, while the parental karyotypes were normal. This is the third reported case of such a constellation, and the second one in which infant and parental chromosomal analysis was done.

The trisomy 4p syndrome: a case report.

Partial trisomy of the short arm of chromosome 4 is considered to be a rare chromosomal disorder. Its clinical and dermatoglyphic features tend to make it a clinically recognizable syndrome. This paper describes a 2 year-old female child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic ears, prognathism and various hand and foot malformations.

Fetal dermatoglyphics.

Dermatoglyphic studies were performed on 24 aborted human embryos in whom major chromosomal aberrations had been revealed by amniocentesis. Prints were obtained from the embryos by the Hollister method. An analysis was done using patterns on finger tips and the atd angle was measured in degrees.