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At least 433 records · Page 24Linked to original sources
PubMed1976

Trigonocephaly and associated minor anomalies in mother and son.

A mother and her son are described with neonatal trigonocephaly, multiple suture synostosis; shallow orbits; unusual nose; deviation of the terminal phalanges of fingers 1, 2, and 5; and broad toes which radiologically may show duplication of the terminal phalanx. Untreated, the condition leads to a disfiguring oxycephaly with hypotelorism. This appears to be the first documented instance of autosomal dominant trigonocephaly. The importance of the minor anomalies in its recognition and its good prognosis are emphasized.

Adult↗
PubMed1989

Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs).

Disturbed spermatogenesis and azoospermia are reported in a man with a deleted Y chromosome. The anomalous Y chromosome appears in the karyotype as a small metacentric marker. In situ hybridisation using three different Y specific DNA probes shows that deletion at Yq11 has resulted in loss of all distal heterochromatin. The sterility of the patient indicates loss also of the azoospermia factor (AZF) located at the Yq distal euchromatic/heterochromatic interface. Microspread and air dried meiotic preparations show a severe impairment of spermatogenesis but rare cells are seen to be progressing to the late prophase stage. The testicular histology shows most of the seminiferous tubules to be completely hyalinised. The father and a fertile brother of the proband show a satellited Y chromosome (Yqs) in their karyotypes. The case appears to be the first of its kind reported in which a father with a satellited Y chromosome has produced a son carrying a different Y chromosome anomaly. The possible derivation of the one from the other is discussed.

Adult↗
PubMed1991

Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.

We report a mother and son with 5th, 6th, 7th, and bulbar cranial nerve paralysis, who had two similarly affected relatives. None of them had primary skeletal defects. Twenty-six previous reports of familial cases within the heterogeneous 'Möbius spectrum of defects' were reviewed. When cranial nerve palsies were associated with a primary skeletal defect, familial transmission was not found. No recurrence was noted in 31 cases with cranial nerve palsies associated with oral abnormalities and limb defects. The term Möbius syndrome should be restricted to cases with congenital 6th and 7th nerve paralysis with skeletal defects, who have a low recurrence risk (2%). The features in an index case which may indicate a higher risk of recurrence are the absence of skeletal defects, isolated facial palsy, deafness, ophthalmoplegia, and digital contractures. A recurrence risk of 25 to 30% in these cases appears reasonable.

Adult↗
PubMed1991

Transmission of Proteus syndrome from father to son?

We present a male infant with cranial hemi-hypertrophy, a lymphangioma, a lipoma, and epidermal naevi. A diagnosis of Proteus syndrome was made. His father had had a large lymphangioma resected from the right side of the face as a child. We propose that Proteus syndrome has been transmitted from father to son.

Adult↗
PubMed1997

Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son.

We report a mother and son who each presented in infancy with hypotonia and global developmental delay. Subsequently, in both subjects, mild mental handicap was diagnosed in association with temporal lobe arachnoid cysts. Mendelian inheritance of this phenotype seems likely and macroscopic cerebral dysplasia in general may be underdiagnosed in people with familial, mild mental handicap.

Adult↗
PubMed2002

Sex ratio and proportion of affected sons in sibships with X-chromosomal recessive traits: maximum likelihood estimation in truncated multinomial distributions.

If mothers are carriers of a recessive male sex-linked disorder, their children may include females, healthy males and affected males. The composition of the possible sibships follows a multinomial distribution. If the mothers are diagnosed as carriers independently of their offspring, then the distributions are not truncated, but if they are classified as carriers after the birth of at least one affected son, the distributions are truncated. In order to avoid ascertainment bias, the statistical analyses of the corresponding data must differ. We present procedures for estimation in both the untruncated and the truncated case. The formulae obtained are applied to family data for X-chromosomal recessive retinoschisis (RS) from the region of Satakunta in southwestern Finland. Earlier studies indicated that, among the offspring of RS carriers, the sex ratio was increased. In our model, therefore, we include both the proportion of males and the proportion of affected individuals among the males. The sex ratio was significantly increased (131.0), but the proportion of affected males was slightly lower than expected (42.5%). RS seems to be the only known genetic disorder in which the offspring of carriers of the mutation include a statistically significant surplus of males.

Chromosome Segregation↗
PubMed1980

Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.

A t(X;Y)(p223;q11) was studied in a mother and son who share features of Turner's syndrome (short stature, mild brachymesomelia, unusual dermatoglyphics) as well as mental deficiency. In the majority of the mother's cells the extra chromosome is late replicating. Ten previous cases are summarized, and the significance of Xp deletions is discussed.

Adult↗
PubMed1985

PGM1 null allele detected in a Caucasian mother-son pair.

The presence of a PGM1 null allele in a mother and her son was deduced from their inconsistent phenotypes. Quantitation studies were done to confirm the half-normal enzyme activity. Phenotype analysis of 29 additional genetic markers gave no indication of non-parentage, making non-maternity a very unlikely explanation for the discrepancy.

Alleles↗
PubMed1990

Henoch-Schönlein purpura and IgA nephropathy in father and son.

Considerable controversy exists as to whether Henoch-Schönlein purpura and Iga nephropathy are different clinical manifestations of the same disease or if, on the contrary, they are separate entities. We report on the development of Henoch-Schönlein purpura and IgA nephropathy in 2 members of the same family. Patient 1, a 63-year-old man, presented with purpura in the legs, abdominal pain, hematuria, renal failure and proteinuria. A biopsy of a purpuric skin lesion showed small-vessel vasculitis, and a renal biopsy showed diffuse proliferative glomerulonephritis with prominent IgA deposits, thus making the diagnosis of Henoch-Schönlein purpura. Serum IgA was increased. Patient 2, the 30-year-old son of patient 1, underwent renal biopsy for the investigation of microscopic hematuria and proteinuria. There was no history of skin rash, and serum creatinine was normal. A renal biopsy showed expansion of the mesangial matrix and marked IgA deposition. HLA typing confirmed that they shared a haplotype. HLA B35 or DR4 were absent. These results demonstrate that Henoch-Schönlein purpura and IgA nephropathy can possibly be genetically related and therefore support the notion that these two diseases probably share a common pathogenesis.

Adult↗
PubMed1985

[Familial plasmocytoma in mother and son].

Familial plasmocytoma in mother and son is documented in three cases, we can add one more. The review of the pertinent literature and our case disclose 40 reports of familial plasmocytoma. It seems that genetic factors may play a role in the pathogenesis of plasmocytoma.

Aged↗
PubMed1988

Dominant dystrophic epidermolysis bullosa of Cockayne-Touraine in father and son: clinical and ultrastructural similarities.

Dominant dystrophic epidermolysis bullosa of Cockayne-Touraine occurred in a father and his son. Clinically, the child presented evident blistering, while the father, despite of his work, where minimal skin traumata frequently occur, was rarely affected. Absent or rudimentary anchoring fibrils were seen in the normal-appearing skin of the father; this suggests that other factors may play a role in the dermolytic separation.

Actin Cytoskeleton↗
PubMed1976

A favorable response to lithium carbonate in a "schizo-affective" father and son.

It has recently been suggested that patients with mania are often misdiagnosed as having schizophrenia. The authors report a favorable clinical response to lithium carbonate in a father and son with an apparent schizo-affective syndromes may respond favorably to lithium but caution that a favorable response in such cases does not absolutely confirm a diagnosis of mania.

Adult↗
PubMed1978

Symptom passing in a transvestite father and three sons.

Three sons of a transvestite father engaged in cross-dressing beginning in early adolescence. The literature suggests that observation may play a role in determining the specificity of the symptoms of conflicted sexual identity. These cases of transvestism in offspring are unusual in that the father played an important role in symptom choice and modeling. It is hoped that in future studies of transvestism in the father will be examined in a more intensive way as a figure with whom an active identification process may evolve.

Adolescent↗
PubMed1990

Tridimensional Personality Questionnaire scores of sons of alcoholic and nonalcoholic fathers.

The authors studied 33 men whose fathers had severe alcohol-related problems and 33 subjects with no family history of alcoholism. The former supplied information about the course of their fathers' alcohol problems; all 66 men answered questions about their own drinking and drug use and completed the Tridimensional Personality Questionnaire. There were no significant relationships between any of the 18 questionnaire scores and a subject's quantity/frequency of drinking or his family history of alcoholism. There was only one significant correlation between the alcoholic fathers' type 2 characteristics, according to the type 1/type 2 theory, and the sons' questionnaire scores. The relevance of these findings to the theory is discussed.

Adult↗
PubMed1977

The concurrent treatment of a multiple-personality woman and her son.

A nine-year-old boy, unaware of his mother's three personalities, was referred for treatment because of difficulties in adjustment. The mother's two created personalities, despite antagonism toward each other, evidenced mutual dependency needs strong enough to preclude the integration necessary to resolve both her son's problems and her own.

Adult↗
PubMed1994

The role of mother-son incest in the pathogenesis of narcissistic personality disorder.

Psychoanalytic case material is presented to illustrate how mother-son incest may be involved in the pathogenesis of a particular subtype of narcissistic personality disorder. Male patients with this disorder have a grandiose view of themselves as entitled to occupy a special position with others, combined with a paranoid tendency to anticipate imminent betrayal. The enormous guilt related to perceived oedipal transgressions leads these patients to fear retaliation from an enraged, vindictive, and castrating father at any moment. In addition, these men often feel that their special role vis-à-vis mother is a precarious one contingent on doing her bidding. Hence, they also live in dread of an impending disaster involving either abandonment or humiliation by their mothers.

Adult↗
PubMed1997

Daughters and sons as caregivers for their demented and non-demented elderly parents. A part of a population-based study carried out in Sweden.

The study focuses on adult children (n = 81) having the main responsibility for parents with dementia (study group). They were compared with children (n = 102) of non-demented parents (reference group). The children were interviewed about burden experienced. The interviews also secured information about the children's co-operation with the informal and formal network and their willingness to remain as caregivers during the progression of the disease or ageing process. The results showed that the daughters reported feeling more affection in their caregiving role than the sons. About one third of the participants in the study could not get relief from someone else. Eighty-nine per cent of the children in the study group and 76% of the children in the reference group were not willing to care for their parents in the family home during the progression of the disease, even if they were employed as caregivers.

Adult↗
PubMed2006

Cervantes: father of Don Quixote and son of a dentist.

In the works of Cervantes, one can observe a detailed knowledge of dental matters. Although some of his biographers think that this is the result of the very broad cultural knowledge of this distinguished Spanish writer, the authors of this paper think differently. Having studied and analyzed many documents referring to the Cervantes family, especially those which dealt with the strong influence the teachings of Cervantes' father had on his son, we have reached the conclusion that his father must have been a 16th Century dentist.

Barber Surgeons↗