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1.
De novo partial 2p duplication with postmortem description.
Monteleone, P L; Blair, J D; Graviss, E R; Chen, S C; Salvador, A; Grzegocki, J A; Monteleone, J A.
Am J Med Genet ; 10(1): 55-64, 1981.
Article in English | MEDLINE | ID: mdl-7197468

ABSTRACT

An unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13 leads to pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, 1-3 , Fetal Growth Retardation/genetics , Infant, Newborn, Diseases/genetics , Chromosome Disorders , Female , Humans , Infant, Newborn , Karyotyping , Pregnancy
2.
Elongated short arm of a G-group chromosome associated with similar phenotypic abnormalities in three patients.
Monteleone, P L; Monteleone, J A; Rivard, D; Grzegocki, J A.
J Pediatr ; 83(3): 473-6, 1973 Sep.
Article in English | MEDLINE | ID: mdl-4725153

Subject(s)
Chromosome Aberrations/diagnosis , Chromosome Disorders , Chromosomes, Human, 21-22 and Y , Klinefelter Syndrome/diagnosis , Adolescent , Child , Dermatoglyphics , Diagnosis, Differential , Humans , Karyotyping , Male , Phenotype
3.
Modified technique for banding human chromosomes.
Hoffman, P H; Grzegocki, J A; Volk, S L; Monteleone, P L.
Lancet ; 2(7776): 543, 1972 Sep 09.
Article in English | MEDLINE | ID: mdl-4115600

Subject(s)
Chromosomes , Staining and Labeling , Humans , Methods
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