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Biomedical subjects

C B Mankinen

Publications and source records attributed to C B Mankinen.

8 recordsLinked to original sources
PubMed2001

A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocation.

We report two cases of a hitherto undescribed pediatric renal neoplasm that is distinctive at the morphological, immunohistochemical, ultrastructural, and cytogenetic levels. On light microscopy, the tumors are composed of nests of polygonal, clear to eosinophilic cells associated with a subpopulation of smaller cells that surround hyaline material. Despite their epithelioid morphology, these tumors do not label immunohistochemically for epithelial markers but instead label focally for melanocytic markers HMB45 and Melan A. The hyaline material is positive with periodic acid-Schiff and methenamine-silver histochemical stains, and labels immunohistochemically for type 4 collagen. Ultrastructural examination confirms that it represents basement membrane material. Cytogenetic analysis reveals the identical t(6;11)(p21.1;q12) chromosome translocation as the sole abnormality in these two tumors, confirming their identity and distinctive nature.

Adolescent↗
PubMed1984

Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell line with a second Robertsonian translocation involving a chromosome 21 and a 22. The chromosome translocations detected in this patient were de novo in origin.

Child↗
PubMed1978

Partial deletion 10q.

The patient described represents the first reported case of partial deletion 10q. The patient is compared to the partial trisomy 10q syndrome.

Asthma↗
PubMed1976

Partial trisomy 15 in a young girl.

Severe mental retardation, growth failure, microcephaly, micrognathia, cleft palate, hooked nose, low-set thin flabby ears, pronounced elongated philtrum, and generalized decreased subcutaneous tissue characterized a 5 year 9 month old female with karyotype 47,XX,+15,del(15)(q15).

Abnormalities, Multiple↗
PubMed1976

Trisomy 13 in a female over 5 years of age.

A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; cleft lip and palate; bulbar nose; coloboma iris; polydactyly; unusual dermatoglyphic patterns; large adductor thumbs; enlarged great toes; multiple capillary haemangiomas; club feet; inguinal and umbilical hernias; hyperconvexed fingernails; and seizure disorder.

Child, Preschool↗
PubMed1976

Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female.

A 3-year-old Latin female is reported with a terminal deletion of the No. 1 chromosome, karyotype formula 46, XX, del(1) (q43). Principle clinical features include: Anatomic - microcephaly; bilateral, convergent strabismus; epicanthus; brachycephaly; bulbar nose; sparse hair; partial soft tissue syndactylism between 2nd and 3rd fingers which are slightly tapered; whorls on all 10 fingers; mild prognathism; solitary kidney; vaginal stenosis; vesicoureteral reflux; asymmetric feet; and subluxation of peroneal tendons around the fibula with severe pronation and heal valgus deformity. Neurologic - moderate motor and mental retardation; high-pitched, shrill cry; absent pincer grasp at 3 years; and grand mal seizures documented from 9 months of age.

Abnormalities, Multiple↗