Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11)

Summary A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del (13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromosomse.     

Temporal morphology and cap formation in Acetabularia--II. Effects of morphactin and auxin

In order to support the hypothesis that circadian rhythms are implicated in cap formation, experiments were undertaken on the possible time-dependency of the effects of (a) a competitive inhibitor of auxins, morphactin and (b) of auxin (IAA). It was found that: (i) the inhibitory effect of morphactin varies dramatically with the time at which the several weeks' treatment was first begun; (ii) the maximum inhibition varies with development and decreases with time; (iii) IAA accelerates cap formation when the algae are submitted to IAA during the exponential growth phase; the effect is time dependent and decreases with time; (iv) IAA first applied on smaller algae has a transient inhibitory effect which is time dependent; (v) anucleate fragments also respond differentially to an IAA treatment begun at several times in the 24-hr cycle, most clearly when newly formed mRNA have been accumulated and (vi) the effect of iAA is not cumulative with that of a LD shift; that of morphactin is not, or only slightly, improved by a LD shift.     

Mosaic pericentric inversion of chromosome 2

A pericentric inversion of chromosome number 2 in mosaic with a normal cell line is reported in a 8-year-old boy associated with slight dysmorphic syndrome and moderate mental handicap.     

Method to identify specific alleles of a Phanerochaete chrysosporium gene encoding lignin peroxidase.

A method to identify and differentiate allelic variants of the gene encoding lignin peroxidase isozyme H8 is presented. The strategy involves amplifying a variable region of the gene's carboxy terminus by use of the polymerase chain reaction and then probing with allele-specific oligonucleotides.     

Interstitial deletion of the short arm of chromosome 12. Report of a new patient and review of the literature

In this report we describe a female neonate with 12p interstitial deletion (karyotype: 46,XX,del(12)(pter----p13.1::p11.2----cen----qter). In addition to severe psychomotor retardation, facial dysmorphism and Turner like stigmata, she presented marked hypoplasia of the external genitalia and right heart hypoplasia. Study of LDH activity showed a marked decrease of LDHB activity contrasting with an elevated LDHA.     

The 5q- and additional chromosome anomalies in two patients with acute myeloid leukemia.

Two elderly women had acute myelogenous leukemia with rapidly fatal course. On initial marrow and unsttimulated blood examination, the 5q- chromosome and additional number and structural chromosome analomalies were observed. The specificity of these findings is discussed.     

Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood

We report on 2 patients, less than age 5 years, and one adult patient with partial duplication 8p, due to interstitial duplication of bands 8p21.1-22. The phenotype in young and adult patients with this chromosomal unbalance syndrome is further documented. In young patients the craniofacial manifestations are very similar to trisomy 8 mosaicism. However, mental retardation is much more pronounced in 8p21-22 duplication than in trisomy 8 mosaicism. The phenotypic changes observed in adult patients are probably secondary and they are due to the great neurologic deficit with generalized spasticity and hypertonia.     

Cystic hygroma and multiple pterygium syndrome

We report the prenatal detection of a cystic hygroma in a 17 weeks gestation male foetus with multiple pterygium syndrome. Ultrasonographic study was performed in this pregnancy after the birth of a macerated, hydropic male foetus with large cystic nuchal hygroma in a previous pregnancy.