Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 9 de 9
Filter
Add more filters










Database
Language
Publication year range
1.
Am J Med Genet ; 90(4): 283-90, 2000 Feb 14.
Article in English | MEDLINE | ID: mdl-10710224

ABSTRACT

Wiedemann-Beckwith syndrome (WBS) has attracted a great deal of attention because of its genetic complexity. Individuals with WBS can be identified objectively by anthropometric analysis. Craniofacial anthropometry in conjunction with multivariate statistical analysis can be used to define patterns of variability that appear to relate to specific modes of inheritance that have been proposed for WBS. Our data on 19 affected individuals and their first-degree relatives indicate that the pattern of inheritance rather than the age of subjects may be responsible for the highly variable craniofacial phenotype found in individuals diagnosed with WBS.


Subject(s)
Beckwith-Wiedemann Syndrome/genetics , Face/anatomy & histology , Genetic Heterogeneity , Skull/anatomy & histology , Adolescent , Anthropometry , Child , Child, Preschool , Cluster Analysis , Female , Humans , Infant , Male , Phenotype
2.
Clin Genet ; 51(2): 115-7, 1997 Feb.
Article in English | MEDLINE | ID: mdl-9111999

ABSTRACT

We report a de novo trisom 6q22.2-->6qter and monosomy 1pter-->1p36.3 identified in amniocytes by GTG banding and FISH. While ultrasonography demonstrated malformations that did not suggest a specific chromosomal syndrome, a male infant with features consistent with trisomy 6q was born. He was followed up until 23 months, when he died after cardiac surgery. The only two other prenatal cases of trisomy 6q were compared with our patient. A literature review showed that trisomy 6q has not been reported in association with the anomalies seen by ultrasound in this case.


Subject(s)
Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 6 , Monosomy , Prenatal Diagnosis , Trisomy , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/genetics , Amniocentesis , Female , Follow-Up Studies , Heart Defects, Congenital/genetics , Heart Defects, Congenital/surgery , Humans , Hypertelorism , Infant , Infant, Newborn , Joints/pathology , Male , Pregnancy , Testis/abnormalities , Ultrasonography
3.
Int J Group Psychother ; 46(3): 379-97, 1996 Jul.
Article in English | MEDLINE | ID: mdl-8753153

ABSTRACT

Group psychotherapy is an effective treatment modality for many teenagers. Although group treatment usually refer to a group of 10 or fewer members, this article argues that larger groups are an even better choice when the members are severely disturbed/conduct-disordered adolescents. Although challenging and exciting, group psychotherapy with these youngsters can be a difficult task. Their narcissistic vulnerability, impaired ability to mediate between internal and external events, and their propensity for violently expressing their frustration, rage, and despair demand a structure that is both firm and flexible, and carefully planned strategies. A structure and technique that maximizes safety during and following group meetings, that positively influences behavior, and that may facilitate an altered perception of self and others are discussed.


Subject(s)
Psychotherapy, Group/methods , Social Behavior Disorders/therapy , Adolescent , Child , Group Processes , Humans , Language , Male , Professional-Patient Relations , Social Behavior Disorders/psychology
4.
Bull Menninger Clin ; 58(3): 355-74, 1994.
Article in English | MEDLINE | ID: mdl-7920374

ABSTRACT

From the vantage point of the interplay between action and language, the author traces the mental transformation of a disturbed adolescent during the course of treatment. Conceptually, this account superimposes the work of Vygotsky on a psychoanalytic understanding of the clinical process. Through systematic observations of the patient's behavior and speech, as well as of interventions aimed primarily at fostering the reemergence of intense affects, the author describes four cycles of communicative complexity. The beginning of self-reflection in a withdrawn, impulsive, hostile teenager, within the arena of an intensive psychodynamic treatment, reinforces Vygotsky's position that crucial changes in the relationship between speech and action can occur in a short period of time.


Subject(s)
Borderline Personality Disorder/therapy , Psychoanalytic Therapy , Acting Out , Adolescent , Borderline Personality Disorder/psychology , Female , Hospitalization , Humans , Language , Models, Psychological , Professional-Patient Relations , Psychoanalytic Theory , Speech
5.
Am J Med Genet ; 37(1): 83-6, 1990 Sep.
Article in English | MEDLINE | ID: mdl-1978567

ABSTRACT

The parental origin of de novo deletions leading to the cri-du-chat syndrome has been investigated. Since the cri-du-chat syndrome is correlated with deletions involving the short arm of chromosome 5 (5p), DNA fragments known to detect restriction fragment length polymorphisms (RFLPs) along 5p were used to establish whether the paternal or the maternal chromosome had suffered the deletion. In cases where only one parent was available, somatic cell hybrids were used in conjunction with RFLP analysis to determine the origin of the deleted chromosome. The deleted chromosome 5 was of paternal origin in 20/25 cases.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 5 , Cri-du-Chat Syndrome/genetics , Female , Genetic Markers , Humans , Male , Polymorphism, Restriction Fragment Length
6.
Am J Med Genet ; 17(1): 311-22, 1984 Jan.
Article in English | MEDLINE | ID: mdl-6711603

ABSTRACT

A kindred has been studied in which mental retardation and marfanoid clinical features are present in several individuals. The pedigree is consistent with X-linked recessive inheritance. Four affected males aged 12-18 years and four obligate carriers have been identified. Clinical findings in the 4 affected males included a tall slender habitus (3) (the fourth was tall but muscular), a long-narrow face (3), large head (4), highly arched palate (4), small mandible (4), abnormal speech (4), hypernasal voice (3), joint hyperextensibility (3), borderline to large testes (3), pectus excavatum (2), atrial septal defect (1), and a double row of teeth (1). Mental retardation (4) ranged from mild to severe; abnormal behavior included hyperactive and aggressive behavior (2), autistic-like (1) and jovial behavior (1). One and possibly two, males had absence of the corpus callosum. Chromosome studies on all were normal; no marker X was observed. We believe this family probably represents a new form of X-linked mental retardation.


Subject(s)
Abnormalities, Multiple/genetics , Intellectual Disability/genetics , Marfan Syndrome/genetics , X Chromosome , Adolescent , Adult , Child , Female , Genetic Linkage , Heterozygote , Humans , Male , Pedigree , Phenotype , Syndrome
SELECTION OF CITATIONS
SEARCH DETAIL
...