Catherine G. Palmer

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

SummaryThe main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia. Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases. Aspects of the clinical evaluations are discussed. All individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently. The relevance of a possible relationship between clinical findings, chromosome abnormalities, and genes present on 11p is discussed. Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance.

Klinefelter's syndrome associated with mediastinal germ cell neoplasms.

Several case reports have suggested an association of primary mediastinal germ cell tumor (PMGCT) and Klinefelters syndrome (KS). In an effort to confirm this association, 22 patients with mediastinal germ cell tumors had chromosome studies performed in a prospective fashion. Five patients (22%) had karyotypic or pathologic evidence of KS. All of the patients with KS had germ cell tumors of the nonseminomatous subtype and were relatively young (median age, 15 years). The literature confirms the findings of a young median age (18 years), nonseminomatous subtype, and mediastinal location of the germ cell neoplasm. We conclude that patients with KS are predisposed to the development of mediastinal nonseminomatous germ cell cancers.

Chromosomal and clinical findings in 110 females with Turner syndrome.

SummaryOne hundred and ten patients with abnormal karyotypes who were referred to the Department of Medical Genetics with the possible diagnosis of Turner syndrome were reviewed. The frequency of chromosomal abnormalities and clinical findings in the different chromosomal types are summarized.

Karyotypic and clinical findings in a consecutive series of children with acute lymphocytic leukemia

Detailed karyotypic findings and clinical data on 70 consecutive newly diagnosed children with acute lymphocytic leukemia (ALL), primarily from Indiana, are presented. These children fall into five karyotypic groups: (a) normal chromosomes; (b) hyperdiploid I, with chromosome numbers greater than 50, frequently with multiple copies of the same chromosome, and often lacking a consistent abnormal clone; (c) hyperdiploid II, with karyotypes having 47-49 chromosomes and usually with all of the karyotypically abnormal cells identical; (d) pseudodiploids, with either translocations or deletions of specific chromosomes; and (e) hypodiploids. Because few of this series of children have expired or relapsed, patients in the karyotypic groups have been considered in relation to those clinical factors that have been found to be of prognostic significance by the Childrens Cancer Study Group. Age, white blood cell count, and platelet count were significantly different in patients among the five karyotypic groups. A significantly greater number of pseudodiploid patients had white blood cell counts greater than 50,000 X 10(6)/L and were not in the infant age group, as has been the case for other series. Specifically, the 4;11 translocation was associated with a higher risk of early death compared with other patients. Among those with normal karyotypes, platelet levels of greater than 100 X 10(9)/L occurred more frequently than among those with abnormal karyotypes.

Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patients with marker chromosomes similarly identified and reported in the literature.

Chiasma and univalent frequencies in aging female mice

Oocytes were obtained from C57BL/6J and ICR female mice ranging in age from six weeks to 15 months. Both strains demonstrated a significant increase in univalents and a significant decrease in chiasma

The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes

SummaryThe physical and dermatoglyphic features obtained from published reports of 128 patients with the trisomy 9p syndrome and 27 patients with the partial 9p monosomy syndrome are tabulated. This information is also provided on two new individuals with each of these chromosomal disorders. The dermal ridge patterns and palmar creases of trisomy 9p which are most helpful from a diagnostic standpoint are zygodactylous or absent palmar digital triradii, brachymesophalangy, reduced total finger ridge count, complex thenar/ID I patterns, transverse palmar ridge alignment, simian creases, distal axial triradii, and great toe and hallucal arch patterns. The characteristic features in partial 9p monosomy include dolichomesophalangy with accessory finger flexion creases, digital whorl patterns and elevated total finger ridge count, distal axial triradii, simian creases, and palmar dermal ridge dissociation.

Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter

The transmission of a t(22q;22q) translocation is reported. The mother had had multiple miscarriages and carried both t(22q;22q) and t(22p;22p) portions of the rearrangement in a portion of her cells. The phenotypically normal daughter, who was the proband and was referred because of multiple miscarriages, also carried the t(22q;22q) translocation.

A syndrome of bizarre vertebral anomalies

Four of seven siblings, the offspring of a consanguineous marriage, have been affected bya newly recognized syndrome. The clinical pattern is characteristic and consists of markedly shortened posterior thorax and neck, increased anteroposterior chest diameter, protuberant abdomen, and bizarre roentgenograms of the chest and spine. The mode of inheritance appears to be autosomal recessive.

Sister chromatid exchange in lymphocytes from patients with Acute lymphoblastic leukemia

SummarySister chromatid exchange (SCE) frequencies were studied in peripheral lymphocytes from 16 patients with newly diagnosed acute lymphoblastic leukemia (ALL) prior to the initiation of chemotherapy. The mean SCE frequency (