Developmental Retardation Associated with an Unbalanced 13–15/18 Translocation

Breibart, Sidney; Mellman, William J.; Eberlein, Walter R.; Loftus, J.

doi:10.1159/000129815

Cited by 16 publications

(2 citation statements)

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“…Nevertheless, since it was verified that the same pattern of dermatoglyphics could be found in different clinical disorders, as well as in normal individuals, the limitations of these studies for diagnostic purposes became obvious. For instance, an excess of whorls in the fingerprints may be found in Turner's syndrome, in cases with translocations involving D and E chromosomes associated or not to a G-chromosome trisomy, in patients with a deletion of an E or X chromosome, in Huntington's chorea, in Fallot's tetralogy, in patients with coarctation or stenosis of the aorta, in Wilson's disease, as well as in cases with skeletal abnormalities associated to anomalies of the face and genitalia (Hodges and Simon 1962, Holt and Lindsten 1964, Breibart et al 1964, Lie et al 1964, Sanchez-Cascos 1964, Engel and Forbes 1965, Townes and Ziegler 1965, De Grouchy 1965, Barbeau et al 1965, Pinsky and George 1965.…”

Section: Dermatoglyphic Studiesmentioning

confidence: 99%

An Appraisal of Genetic Studies on Leprosy

Beiguelman

1972

Acta genet. med. gemellol.

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SummaryThe present paper reviews the research lines which have been explored to evaluate to what extent genetic factors are intervening on the mechanism of resistance and susceptibility to leprosy.It presents a critical discussion of the investigations on the familial association of leprosy, familial association of leprosy types, intrafamilial contagion of leprosy, concordance of leprosy in twinpairs, racial differences on leprosy prevalence and lepromatous rate, pedigree studies, association of leprosy to genetic markers, Australia antigen, and dermatoglyphic patterns. Space was also allotted to review family and twin-pair studies on the Mitsuda reaction, as well as to the investigation on the in vitro behaviour of blood macrophages against killed M. leprae.Some areas in which further research on leprosy and genetics may be considered as prioritary are outlined with some detail.

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Section: Dermatoglyphic Studiesmentioning

confidence: 99%

An Appraisal of Genetic Studies on Leprosy

Beiguelman

1972

Acta genet. med. gemellol.

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“…In 2 Fallen (Ruffi5 et al, 1966;Fredga u. Rayner, 1967) (Wolf et al, 1966;Miller et al, 1970). In anderen Fallen ist sehr wahrseheinlieh ebenfMls die Translokation fiir die MiBbildungen verantwortlieh, obwohl noeh kein entspreehendes Syndrom abgegrenzt werden kann (Wallace u. Anderson, 1964;Breibart et al, 1964;Valdmanis et al, 1967;Kroll u. Mostafawy, 1969). Naeh der Chromosomenmorpbologie ware yon Tandemtranslokationen zu sprechen; diese Bezeiehnungsweise ist hier abet nieht haltbar.…”

Section: Diskussionunclassified

Fragliche Tandemtranslokation C/13 bei einem Jungen mit Mi�bildungen

1971

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A Case o/a Possible Tandem-Translocation C/13in a Boy with Mal/ormations Abstract. Tandem-translocations, in agreement with centric fusions, do not cause anomalies. If a tandem-translocation is found cytogenetically together with anomalies, it can not be designated as tandem-translocation unless it is familial. In sporadic cases a tandem-translocation can only be specifically excluded when the malformations can be associated with a well-defined deficiency syndrome. One observation from our own patents is given with special reference to this problem.

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D/E (13-15/17-18) Translocation

Townes¹,

Ziegler²

1965

Am J Dis Child

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The patient is a 4-month-old white male infant born at term to a 21-year-old Rh positive, gravida 1 woman after an unremarkable pregnancy. The labor was spontaneous and the delivery, uncomplicated. Birth weight was 6 lbs 10 oz (3,005 gm), and the only abnormalities noted were bilateral cephalohematomata.The father is 28 years old and in good health. Except for a mild iron deficiency anemia, the mother has also enjoyed good health. Neither parent received any therapeutic or diagnostic xray studies except for an occasional chest film.There were no drugs taken during the gestation except for an oral iron medication. Both maternal and paternal family histories are negative with re¬ gard to congenital malformations, mental retarda¬ tion, or any other recognizable disturbances of growth and development.Received for publication June 1, 1965. From the departments of anatomy and pediatrics, University of Rochester School of Medicine and Dentistry.Reprint requests to 260 Crittenden Blvd, Rochester, NY 14620 (Dr. Townes).The patient evidenced no major difficulties during the neonatorum except for poor weight gain, mild anorexia, somewhat peculiar facies, generalized hypotonia, and lethargy.At the age of 2j/¿ weeks, the patient was seen because of the above complaints and on examina¬ tion was found to be an extremely lethargic, wasted, chronically ill-appearing male infant who evidenced very little spontaneous movement. Ir¬ ritability was minimal and a cry was not elicited even during venipuncture. Vital signs were nor¬ mal. The skin was loose and of poor turgor.The head was grossly normocephalic except for the resolving bilateral parietal cephalohematomata.The anterior fontanelle was of normal size and tension. Although the facies were in no way specifically abnormal, they evidenced the overall lethargy of the infant. Ocular abnormalities were not evident. The mouth and mandible were small and the ears, low set. Chest was symmetrical, without deformity, and clear to percussion and auscultation. Heart sounds were of good quality and without murmur. The abdomen was scaphoid but free of organomegaly and abnormal masses. The genitalia were normal infant male with neither testis palpable in the scrotum or inguinal canals. Neurologic examination revealed no pathologic re¬ flexes, except a Moro was not elicited. Extremities were symmetrical bilaterally; the fingers were relatively long but free of deformity. Hip abduc¬ tion was limited.At 6 weeks of age, the patient weighed 6 lb 13 oz (3,090 gm) and measured 21% inches (56 cm ) in length. At 10 weeks of age the patient weighed 7 lb 8 oz (3,402 gm) and measured 23 inches (58 cm) in length. Physical findings on examination were as previously noted except that the infant appeared less lethargic, less wasted, and he evi¬ denced mild irritability to noxious stimuli. His appetite had improved and he presented no par¬ ticular difficulties at home. The appearance of the infant at this time is shown in Fig 1. A blood sample for chromosome analysis was obtained.

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Developmental Retardation Associated with an Unbalanced 13–15/18 Translocation

Cited by 16 publications

References 0 publications

An Appraisal of Genetic Studies on Leprosy

An Appraisal of Genetic Studies on Leprosy

Fragliche Tandemtranslokation C/13 bei einem Jungen mit Mi�bildungen

D/E (13-15/17-18) Translocation

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