| This paper reports the case of a patient with Turner's syndrome, who developed a myocardial infarction at the age of 36. Turner's syndrome, associated with gonadal insufficiency, increases atherosclerotic cardiovascular risks that must be assessed during the patient's follow-up. ( info) |
2/663. Rare middle ear anomaly in a patient with Turner's syndrome. A patient with Turner's syndrome presented with a rare anomaly of absent oval window, inferiorly placed facial nerve, and abnormal stapes. To our knowledge, this is the first report of this combination of malformations. ( info) |
3/663. Triple X female and Turner's syndrome offspring. A mentally retarded young female having 47 chromosomes with a triple X karotype produced a child with Turner's syndrome associated with mental defeciency. To our knowledge this is the first example of a triple X female giving birth to a child with Turner's syndrome. ( info) |
4/663. De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis. A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting. ( info) |
5/663. Complete interruption of the aorta in Noonan's syndrome. A patient is presented who lived to age 60 with complete interruption of the aorta associated with Noonan's syndrome. On chest x-ray there were calcified mediastinal masses and bilateral rib notching. angiography demonstrated complete interruption of the aorta with markedly dilated tortuous intercostal arteries. The roentgenographic studies are correlated with the surgical and pathological findings. Noonan's syndrome is discussed. ( info) |
| PURPOSE: This article represents the first report in the ophthalmology literature of an association between pseudotumor cerebri (PTC) and recombinant human growth hormone (rhGH). DESIGN: Noncomparative case series. PARTICIPANTS: Three children receiving rhGH for short stature with turner syndrome, Jeune syndrome, or down syndrome. methods: Children underwent full ocular examination. After papilledema was identified, patients underwent lumbar puncture and imaging with either magnetic resonance imaging or computerized tomography. Treatment was under the guidance of the primary physician or neurosurgeon. The rhGH was discontinued in all children. MAIN OUTCOME MEASURES: visual acuity and evaluation of the optic nerve for resolution of papilledema were followed at each examination. RESULTS: In all three cases, papilledema resolved with the cessation of rhGH, and treatment with acetazolamide or prednisone. visual acuity was unchanged in case 1, decreased by two to three lines in case 2, and was inconsistent in case 3. One child (case 2) required a ventriculoperitoneal shunt for persistent elevation of intracranial pressure. CONCLUSION: There appears to be a causal relationship between the initiation of rhGH with the development of PTC. Children should have a complete ophthalmic evaluation if they report headache or visual disturbances. Baseline examination with routine follow-up should be instituted when children cannot adequately communicate. ( info) |
| The radiographic observation of stippled calcification in cartilage defines the chondrodysplasia punctata group of bone dysplasias. Several other diseases may be associated with the radiographic finding of punctate epiphyses, usually uncommonly - for example, trisomy 21. Other more subtle chromosomal abnormalities also associated with punctate epiphyses include microdeletions of the X chromosome. A case of turner syndrome with punctate calcification of the epiphyses is described. ( info) |
8/663. Two male patients with ring Y: definition of an interval in Yq contributing to turner syndrome. turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full turner syndrome and one (DM) without. TS has short stature, skeletal anomalies, lymphogenic obstruction, cardiovascular abnormalities, and miscellaneous features including pigmented naevi, antimongoloid slanting of the palpebral fissures, and widely spaced nipples. In contrast, DM has short stature but no other specific Turner stigmata except high arched palate and a few pigmented naevi. Since little chromosomal mosaicism was detected, the different segments of the y chromosome retained by these two males identify the location of one or more "anti-Turner" genes. Most of the Yp pseudoautosomal region and Yq were deleted from both patients during the formation of the ring chromosome, while the Y specific portion of Yp and the centromere were retained. The major difference detected was an interval of proximal Yq present in DM and deleted in TS. None of the previously identified genes, DFFRY, DBY, UTY, or TB4Y, lies entirely within this interval, although DFFRY was truncated by DM's breakpoint. These data suggest that one or more additional "anti-Turner" gene(s) remains to be identified in the region of Yq proximal to DFFRY. ( info) |
9/663. A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female. OBJECTIVE: To determine whether an SRY mutation participated in the phenotypic outcome in the case of a 45,X/47,XYY female. DESIGN: Analysis of genomic dna for mutations in SRY. SETTING: An academic teaching hospital. PATIENT(S): A family that included one phenotypic female with 45,X/47,XYY mosaicism. INTERVENTION(S): Extraction of dna, polymerase chain reaction analysis, nucleotide sequencing, and restriction enzyme analysis. MAIN OUTCOME MEASURE(S): Comparison of control and subject dna sequences. RESULT(S): The patient demonstrated one nucleotide (thymine, T) deletion at position 422, leading to a frame-shift mutation. This mutation changes the codon for Tyr (TAT) to a stop codon (TAG) within the open reading frame just upstream of a conserved dna-binding motif. Neither other mutations nor nucleotide mosaicisms were found in the remaining regions of the gene. This mutation was not present in the patient's normal father. CONCLUSION(S): The mutant SRY may be assumed to induce a nonfunctional SRY-coded protein that lacks a dna-binding motif. These results explain the phenotypic female and the gonadal dysgenesis in the 45,X/ 47,XYY sex-reversed offspring. ( info) |
10/663. Cri du chat and turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies. A newborn girl with features of Turner and Cri du chat syndromes was found to have a pseudodicentric 5;X chromosome. Her karyotype was 45,X, psu dic(5;X)(p15.2;p22.1). The net result was monosomy for 5p15.2-pter and Xp22.1-pter. fluorescence in situ hybridization (FISH) showed the Cri du chat region was deleted. Replication banding studies to assess the X-inactivation pattern found only the X portion of the pseudodicentric chromosome to be late replicating without any apparent spread of inactivation into chromosome 5 segment. There are only two cases reported with a dicentric X; autosome. In this paper, we compare the cytogenetics of the present case and those in the literature. ( info) |