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Biomedical subjects

R C Juberg

Publications and source records attributed to R C Juberg.

At least 19 recordsLinked to original sources
PubMed1990

Familial sex chromosomal mosaicism.

Familial mosaicism has rarely been reported either for autosomes or sex chromosomes. Its recognition poses problems in prognosis, especially in prenatal diagnosis. Three generations of females showed sex chromosomal mosaicism with 3-4 cell lines, the diploid predominant. Phenotypic effect, if any, appeared limited to reduced fertility. The proposita, ascertained prenatally, has grown and developed normally. A dominant gene mechanism most likely accounts for the observations, either autosomal or X-linked. If the mechanism in this family is monogenic, then the gene may not be strictly private considering the frequency of mosaic amniotic fluid cell cultures.

Adult↗
PubMed1987

Critical region hypothesis: primary amenorrhea in an 18-year-old woman with a complex translocation (X;2;8).

An 18-year-old woman presented with primary amenorrhea. She was prepubertal and had a few minor anomalies. Nonreciprocal chromosome translocations involving the X, a 2, and an 8 included a break in the region of the Xq13-q26, considered critical for normal ovarian development. Breakpoints within this region are thought to interfere with normal gonadal development. Our patient had no evidence of normal ovarian tissue or evident manifestations of the Ullrich-Turner syndrome.

Adolescent↗
PubMed1987

Fetal death associated with a t(1;14) in three generations.

Fetal death is a common phenomenon; parental chromosome study may uncover the cause of the problem and contribute to the management of the couple involved. Discovery of a translocation provides a firm basis for genetic counseling, detection of carriers, and prenatal diagnosis. We have studied a young couple with a history of 4 consecutive spontaneous abortions before cytogenetic study demonstrated the father to carry a t(1;14). The translocation was found in 2 other adults, a liveborn child, and a fetus, in a total of 3 generations.

Abortion, Habitual↗
PubMed1985

Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters.

Hypermodal chromosomal spreads occurred significantly more frequently in lymphocytes from couples with recurrent spontaneous abortion than from comparison populations. Previously, we reported a similarly increased frequency in couples with aneuploid offspring. Considering the frequency of aneuploidy among first trimester spontaneous abortions, we suggest that there may be a sub-population of persons predisposed to non-disjunction among couples with reproductive wastage.

Abortion, Habitual↗
PubMed1983

Origin of nondisjunction in trisomy 21 syndrome: all studies compiled, parental age analysis, and international comparisons.

The Q-band polymorphism of chromosome 21 permits assignment of the origin of meiotic nondisjunction by parent and meiotic division in a certain proportion of cases. We have compiled all reports through 1982 (including earlier studies using structural abnormality) and have shown that maternal origin accounts for 80% and paternal origin for 20% of trisomic cases. The ratio of first:second meiotic errors among the maternal cases was 80:20 and 60:40 among the paternal cases. Considering maternal and paternal first and second meiotic errors, we showed no differences of either mean maternal or paternal age, though mean maternal age is about 5 yr higher than that of the general population. Comparison of results of six studies from five countries showed similar frequencies by parent and meiotic division with the possible exception of one study from the northeastern United States. The causative role of simply advancing maternal age in nondisjunction is questioned.

Adult↗
PubMed1983

Dissociation of a t(12;21) resulting in a normal cell line in two trisomic 21 sons of a nonmosaic t(12;21) father?

A normal cell line arising from a translocation, t(12;21), possibly by dissociation, was observed in two brothers in early life. Each was conceived as trisomic 21 by their 45,XY,-12,-21,+t(12;21) father, who was phenotypically normal. Each brother showed morphologic manifestations of trisomy 21 syndrome, and each was mildly mentally retarded. Dermatoglyphic indices were not diagnostic of trisomy 21 syndrome. At 4 months the younger brother had a 50:50 proportion of trisomic:normal blood cells which became 25:75 of trisomic 21:normal at 36 months. The older brother had a 25:75 proportion of trisomic 21:normal when first studied at 41/2 years. A similar t(12;21) has not previously been reported. The occurrence of an apparently normal cell line arising spontaneously is unique.

Adult↗
PubMed1983

Origin of chromosomal abnormalities: evidence for delayed fertilization in meiotic nondisjunction.

This study ascertained 35 aneuploid patients, of which 34 had trisomy 21 and one had trisomy 18. Their parents were matched by age at the conception with parents of 35 euploid patients with congenital defects. Interviews with the couples focused on exposures and activities at the time of the conception. No parents had infectious hepatitis preceding the conception, and one study mother and four comparison parents reported drug ingestion. Eight parents in the study group and two in the comparison reported radiation exposure. One family in each group had a history of thyroid disorder. The groups differed mainly in their sexual histories; circumstances favoring the possibility of delayed fertilization (contraceptive failure, infrequency of intercourse, or premarital conception) existed in 22 of the study group but in only seven of the comparison group.

Adolescent↗
PubMed1982

Dermatoglyphics of hyperactive males.

In investigating the dermatoglyphics of hyperactive subjects, it was proposed that if similar hyperactives were sampled and significant differences were found from suitable controls, a genetic effect could be responsible. From two clinical populations, we ascertained 26 subjects in 24 sibships comprising the hyperactive study group. The control subjects came from an earlier study. Tables 2-9 contain summaries of the dermatoglyphic analyses of both subjects and controls. Data were grouped following a dermatoglyphic principle of complexity of pattern, specifically, and the number of triradii present. The scheme for reporting the results is: selection of the characteristic (pattern, ridge count); determination of the areas (digit, palm, sole); and comparison of the frequencies or counts in the two populations (hyperactives, controls). Among the 45 statistical tests, four achieved a 5% level of significance. Thus, with a seemingly homogeneous sample of hyperactive males and with criteria for comparisons, no characteristic dermatoglyphic features emerged. Considering the highly characteristic effects of chromosomal abnormality on dermatoglyphics as well as the features associated with an early intrauterine developmental disturbance, the lack of dermatoglyphic similarities in these hyperactive males reduces the likelihood of such a profound factor as a causal mechanism.

Attention Deficit Disorder with Hyperactivity↗
PubMed1981

Clinicopathological conference: a newborn monozygotic twin with abnormal facial appearance and respiratory insufficiency.

The second of twins males expired of respiratory insufficiency shortly after birth. Unusual facial appearance included prominent forehead, flat nasal bridge, widely separated inner canthi, downward slanting eyes with narrow palpebral fissures, epicanthic folds, small mouth and micrognathia, and apparently low-set ears; there was also cryptorchidism bilaterally and a simian crease bilaterally. The pregnancy of the 19-year-old black woman was not unusual, but polyhydramnios accompanied the delivery of this twin. The twin placentae were diamniotic and monochorionic, one being slightly immature with a two-vessel cord. We interpreted the karyotype as 46,XY,del(10) (p11-15): The brother and parents were normal. The dysmorphic features of this and three previously reported cases of 10p- do not permit definition of a syndrome. These are apparently the first monozygous twins presenting discordance of chromosomal structure; previously reported chromosomal discordance in monozygous twins involved numerical abnormality. Considering that the mechanism monozygous twinning is not understood, we note that the occurrence of both twinning and a structural aberration in one of the twins suggests the possibility of a common cause.

Abnormalities, Multiple↗
PubMed1981

Partial monosomy 7q syndrome due to distal interstitial deletion.

A female infant was ascertained at 10 weeks because of failure to thrive and a peculiar cry and was found to have few morphologic variants. Her karyotype was 46,XX,del(7)(q3105::q3405). The parental karyotypes were normal. At one year she manifested physical retardation and development delay and required surgery for gastroesophageal incompetence. The phenotypic characteristics of this patient and those of six previously reported cases of 7q medial or distal interstitial deletion include many anomalies. Morphologic abnormalities of the head, ears, eyes, mouth, chest, hands, feet, and nerves combined with characteristics of birth weight, growth, and development define a detectable syndrome. An unusual cry may help in the recognition of this new syndrome.

Child, Preschool↗
PubMed1981

New deletion syndrome: 1q43.

A male infant showed dysmorphology of the head and face, neck, extremities, and genitalia, as well as growth and mental retardation. His G-banded karyotype was 46,XY,--1+der(1),t(1;16)(q43;q24)mat. Combined with five previously reported cases involving similar terminal deletions beginning at 1q42 or 43, we show that the homology of phenotypic characteristics permits identification of a new deletion syndrome, the first involving chromosome 1.

Abnormalities, Multiple↗
PubMed1980

The inheritance of digital dermatoglyphic patterns in 54 American Caucasian families.

We searched for single gene effects in determining digital patterns and compared with the evidence for monogenic determination in Israelis (Slatis et al., '76). Our subjects were 108 parents from central Louisiana and 123 of their offspring; there were 127 females and 104 males ranging in age from eight to 66 years. Arches on the thumb--Among 11 subjects, two were bilateral, and three pairs were related, two as parent-child and one as sib-sib; the findings support the concept of an incompletely penetrant dominant gene. Radial loops on the thumb--three occurred unilaterally in unrelated subjects. Ulnar loops (U) and whorls (W) on the thumb--Phenotype frequency was 104 UU, 65 UW, 47 WW, 15 other. The proportion of UU offspring was highest with both UU parents and diminished as the parents had increasingly more W, supporting the single locus hypothesis. Arches (A) on the fingers--71 A, 160 non-A showed a greater A frequency than in the Israelis. The proportion of A offspring was highest with both A parents and diminished as the parents became non-A. Sequence WWUWW--Among nine subjects, one was bilateral, two left, and six right; two pairs related as parent-child and sib-sib. Sequence WUUWW--Among five subjects, one was bilateral, and three were related as parent-offspring. Radial loops on index fingers--Frequency of 32% was greater than in the Israelis. Middle fingers--86% were U, 73% being bilateral. Radial loops on ring and little fingers--Among eight unilateral subjects, none was related. Ulnar loops and whorls on ring fingers--Proportion of UU offspring was greatest with both UU parents and diminished as parents became WW. We conclude that the Louisianians showed evidence for single gene effects similar to that of the Israelis.

Adolescent↗
PubMed1980

A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism.

The proband and two maternal uncles were similarly affected by a unique constellation of mental retardation and physical abnormalities. There were severe retardation, growth less than the third percentile, and significantly delayed bone age. They manifested deafness, a flat nasal bridge, several ocular abnormalities, and a rudimentary scrotum with cryptorchidism, and one had a small penis. The proband also had onychodystrophy of his fingers and toes. Their birth weights and lengths were less than expected. No chromosomal or biochemical abnormality was detected. Both uncles died, but the proband is healthy at 4 years. Their phenotype is distinguished from other forms of X-linked mental retardation and appears to be a new syndrome.

Adult↗
PubMed1978

The inheritance of palmar and hallucal dermatoglyphic patterns in fifty-four American Caucasian families.

We searched for single gene effects determining certain palmar and plantar patterns - two interdigital and the hypothenar areas, palmar main line sequence, and hallucal pattern. Our subjects were 108 parents from central Louisiana and 123 of their offspring; there were 127 females and 104 males. For the third and fourth interdigital areas, we classified for presence of a pattern (+) or no pattern (-). For the hypothenar area, we classified arch, anteform, and open field as no pattern (-) and other configurations as a pattern (+). Main line sequence we determined by the distal to proximal ordering of the five main lines. We analyzed the hallucal area by combining three loop patterns. Segregational analyses followed. For the third interdigital area, the frequency of + was 51%. For the fourth interdigital area, the frequency of + was 45%. We set out the six mating types by the bilateral occurence of pattern in each area and found similar results. The proportion of ++ offspring was highest with both ++ parents and diminished as the parents became increasingly more --. Evidence for genetic determination of six different main line sequences consisted of the proportion of related/(related + unrelated) which averaged 0.48. Parent-offspring occurrence of an accessory triradius and absence of the c triradius suggested monogenic control. Segregation of the hallucal patterns was less suggestive. We conclude that the results offer evidence for substantial genetic determination of palmar dermatoglyphics, and for some patterns possible monogenic determination.

Adolescent↗