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N Philip

Publications and source records attributed to N Philip.

At least 73 records · Page 4Linked to original sources
PubMed1997

Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?

The phenotypic spectrum caused by the microdeletion of chromosome 22q11 region is known to be variable. Nearly all patients with DiGeorge sequence (DGS) and approximately 60% of patients with velocardiofacial syndrome exhibit the deletion. Recent papers have reported various congenital defects in patients with 22q11 deletions. Conversely, some patients have minimal clinical expression. Ten to 25% of parents of patients with DGS exhibit the deletion and are nearly asymptomatic. Two female patients carrying a 22q11 microdeletion and presenting with idiopathic thrombocytopenic purpura are reported. Both had children with typical manifestations of DGS.

Adult↗
PubMed1997

[Smith-Magenis syndrome].

Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly; aberrant behavior and major sleep problems are present in 70% of the cases. It is probably under-diagnosed because the facial abnormalities are mild and the behavioral problems with hyperactivity and self-injuries are dominant, leading to the diagnosis of psychiatric pathology. However these behavioral problems are sufficiently characterized to allow the diagnosis of the syndrome and look for a 17p11.2 microdeletion. Otorhinolaryngologic, ophthalmologic, cardiac and renal abnormalities can be associated and their evaluation is necessary. Smith-Magenis syndrome is considered as a contiguous gene syndrome. Genes have been mapped and isolated to the critical region, but their participation in the pathogenesis of the syndrome remains unclear.

Abnormalities, Multiple↗
PubMed1997

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.

Adolescent↗
PubMed1997

Prenatal diagnosis of 22q11 microdeletion.

Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. Familial transmission accounts for about 10-20 per cent of cases and most of the parents with deletions are nearly asymptomatic. This phenotypic variability makes it difficult to give appropriate genetic counselling. We report our experience on prenatal diagnosis of 22q11 deletion. We proposed prenatal detection of 22q11 microdeletion in 33 pregnancies. In two instances the parents refused prenatal diagnosis and one pregnancy ended spontaneously before the time of sampling. Fluorescent in situ hybridization (FISH) analysis on cultured amniotic cells with probes mapping in the commonly deleted region was used in the remaining 30 cases. Indications were classified into two groups. The first group included four couples with an abnormal family history of a deleted child and/or a deleted parent. No deletion was found in this group. The second one concerned pregnancies with a prenatally detected heart defect. Among these pregnancies with abnormal ultrasound findings, three deletions were found in the 26 samples tested.

Chromosome Deletion↗
PubMed1996

Otolith disorder.

Explore the source record for details and available documents.

Hearing Loss↗
PubMed1996

i(18q) in amniotic and fetal cells with a normal karyotype in direct chorionic villus sampling: cytogenetics and pathology.

A case of false-negative discrepancy between results of chorionic villi (direct preparation) and those of fetal tissue with an isochromosome 18q [i(18q)] in amniotic cells and fetal blood is reported. Fluorescence in situ hybridization (FISH) confirmed this uncommon chromosomal rearrangement. The fetus showed cyclopia and multiple congenital anomalies which have never been reported in cases of i(18q).

Abnormalities, Multiple↗
PubMed1996

[Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients].

UNLABELLED: Most of the children with Di George syndrome and 60% of patients with velocardiofacial syndrome exhibit a microdeletion within chromosome 22q11. The phenotypic expression of this chromosomal abnormality is highly variable. PATIENTS: Forty-nine children, 0 to 15 years of age, were demonstrated as carriers of a 22q11 microdeletion. The main referral diagnoses were: Di George syndrome (19 cases), velocardiofacial syndrome (14 cases); congenital heart defect with dysmorphism (9 cases); hypoparathyroidism (2 cases). The microdeletion was detected by fluorescent in situ hybridization with probes specific of the 22q11 region. RESULTS: Facial dysmorphism was the only constant feature. A congenital heart defect was present in 84% of cases. Significant hypocalcemia was documented in 51% of cases and thymic hypo or agenesis in 83%. Significant immune deficiency was documented in nine cases. The most frequent associated defects were urinary tract malformations (8 cases). A cleft palate was present in height enfants but velopharyngeal insufficiency was almost constant. Two-thirds of children had psychomotor delay, and five children exhibited behavioral problems. Of the 35 couples of parents tested, eight mothers were found to be carriers of the deletion. CONCLUSION: For the pediatrician, it is essential to know the variability of the clinical picture. The long-term prognosis is conditioned by the possibility of mental retardation and learning disabilities. Parents should be tested for the presence of the deletion. The occurrence of the microdeletion in asymptomatic relatives raises difficult problems in genetic counselling.

Child↗
PubMed1996

Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.

In 1993, Suthers et al. reported on a child with an undiagnosed syndrome associating developmental delay, brachycephaly, deafness and cataracts. They discussed the possibility that this child had the same dysmorphic syndrome as the patient reported by Fine and Lubinsky in 1983. Twenty years ago, we examined a very similar patient who has been followed up to now. When she was a baby, she looked extremely similar to another patient, reported by Preus et al. in 1984. We now think that these four patients have in fact the same syndrome, the patient reported by Fine and Lubinsky being an example of a very severe expression of this condition, the other patients expressing different anomalies depending on the age at examination.

Abnormalities, Multiple↗
PubMed1996

Increased paternal age in CHARGE association.

The acronym CHARGE refers to a non-random clustering of congenital malformations whose cause remains unknown. Here, we report on a series of 41 patients and find a significant increase in mean paternal age of birth of CHARGE patients (33.7 +/- 8 years) compared with the control population (30.8 +/- 5 years). In contrast, maternal age was not statistically different in patients and controls. These data suggest the possible role of a dominant mutation or, less likely, a subtle chromosomal abnormality in CHARGE association.

Abnormalities, Multiple↗
PubMed1995

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

We have determined the parental origin of the deleted chromosome 22 in 29 cases of DiGeorge syndrome (DGS) using a CA-repeat mapping within the commonly deleted region, and in one other case by using a chromosome 22 short arm heteromorphism. The CA-repeat was informative in 21 out of 29 families studied and the deleted chromosome was of maternal origin in 16 cases (72%). When these data are pooled with recent results from the literature, 24 de novo DGS, velo-cardio-facial syndrome (VCFS) and isolated conotruncal cardiac disease deletions are found to be of maternal origin and 8 of paternal origin, yielding a chi 2 of 8 with a probability level lower than 0.01. These data, and review of the literature on familial DGS/VCFS and isolated conotruncal cardiopathies suggest that there is a strong tendency for the 22q11.2 deletions to be of maternal origin.

Chromosome Deletion↗