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PubMed1987

[Sonography of the hip joint in skeletal dysplasias and chromosome disorders].

The preliminary results of ultrasound of the hip in patients with skeletal dysplasias and chromosomal aberrations are described. Pathology of the hip joint can be demonstrated by ultrasound; especially the entities with abundant cartilage can be visualized by sonography. Ultrasound of the hip is a valuable method in the diagnosis of skeletal dysplasias complementary to plain x-ray surveys.

Bone Diseases, Developmental↗
PubMed2003

A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.

Wolf-Hirschhorn syndrome (WHS) is a genetic disorder caused by a deletion of the short arm of chromosome 4. Sgrò et al. described an electroclinical profile for WHS, but data regarding this issue are scarce. We report an 8-year-old girl presenting the classic phenotype for WHS, confirmed by FISH test. Epilepsy started during infancy with myoclonic seizures. Later, she presented atypical absences, which gradually increased in frequency, and at the age of 2.5 years, she presented a non-convulsive status epilepticus. Epilepsy was controlled with valproate at the age of 6 years. Serial EEGs were performed and showed unusual bursts of generalized, high amplitude delta waves with superimposed low-moderate amplitude sharp waves. A literature review was performed and our case was compared to others, where EEG and/or epilepsy were addressed. Our case and previously published data show that WHS presents a stereotyped epilepsy profile and EEG patterns. A discussion concerning similarities between these findings and those observed in Angelman syndrome has been performed, since in both syndromes, GABA genes are involved and may play a role in the pathogenesis. Although fascinating, this theory is simplistic, since patients with Angelman syndrome without GABA deletion may present epilepsy and EEG abnormalities. Another issue is the striking overlap regarding these features, between WHS and Pitt-Rogers-Danks syndrome, which may be a key in showing that these disorders could be a spectral variation of the same entity.

Angelman Syndrome↗
PubMed1982

[Chromosome disorders in retinoblastoma cells].

The karyotype of 7 unilateral retinoblastomas was studied. Loss or a gain of chromosomes and structural chromosomal changes were observed in all tumors. Modal chromosome number was pseudodiploid in four and near-diploid in three tumors. There were no sex chromosomes (X or Y) in 3 tumors. Four tumors were characterized by the presence of an identical marker chromosome--i(6p). Two other markers--lp+ and 17q+ (probably, not quite identical)--were present in 4 and 3 tumors, respectively. The cells of two retinoblastomas contained both i (6p) and 17q+ markers.

Child, Preschool↗
PubMed1996

Fetal heart rate patterns in pregnancies with chromosomal disorders or subsequent fetal loss.

OBJECTIVE: To evaluate whether an abnormal fetal heart rate (FHR) is associated with chromosomal abnormalities in pregnant women undergoing an invasive procedure for prenatal diagnosis, and to investigate an abnormal FHR's potential value in predicting fetal loss in chromosomally normal pregnancies after the procedure. METHODS: This was a prospective study including 867 women, all consecutive singleton pregnancies at 10-18 weeks' gestation, who underwent chorionic villus sampling (n = 371) or genetic amniocentesis (n = 496) at our institution. Fetal heart rate, expressed as beats per minute, was measured before the invasive procedure. Structural malformations detected by ultrasound were excluded. RESULTS: Chromosomal abnormalities were diagnosed in 25 fetuses, including 11 with trisomy 21. In ten of 25 fetuses with chromosomal abnormalities, the FHR was between the fifth and 95th percentiles established before the procedure for the chromosomally normal group with normal outcome. Using the fifth percentile as a cutoff for trisomy 21, the detection rate was 63.6%, with a specificity of 96.2% and a positive predictive value of 17.9% (one in 5.5) in our population. Moreover, in six of the ten chromosomally normal miscarriages occurring within 4 weeks after the procedure, the FHR was above the 95th percentile. CONCLUSION: Although the value of a single measurement for screening purposes needs to be confirmed by further investigation, our preliminary data suggest that chromosomal anomalies, especially trisomy 21, may be suspected in fetuses with an abnormally low FHR in early pregnancy. In chromosomally normal fetuses, the detection of an abnormally high FHR in some degree may be predictive of fetal loss after the invasive procedure.

Adult↗
PubMed1994

Chromosomal disorder and neoplastic diseases in a family with inherited fragile 16. Causality or casualty?

We describe a family with an inherited fragile chromosome 16 with the concurrence of a constitutional chromosome abnormality, together with neoplastic pathology within the family. The following findings should be pointed out: in relation to the constitutional chromosome pathology, of the proband's 3 children, the eldest daughter was a carrier of the fragile 16, the same as the father, and the second child, a son, had Down syndrome (trisomy 21). Regarding the tumoral pathology of this family, one of the proband's daughters died in childhood from acute lymphoblastic leukemia, whereas the proband developed two different malignant hematologic disorders: a follicular lymphoma and an acute nonlymphocytic leukemia (M5 type). Moreover, two independent acquired chromosome disorders coexisted in the proband; each of these was related to one of the respective hematologic disorders.

Aged↗
PubMed2006

[Chromosomal causes that produce mental retardation: chromosome disorders that can be diagnosed in the patient].

INTRODUCTION: In all the aetiological studies carried out on idiopathic mental retardation (MR), chromosomal abnormalities are the factor that makes the most significant contribution. The alterations are more frequent when severe MR is accompanied by a dysmorphic phenotype, but can also be found in subjects with mild MR and with few signs of dysmorphism. DEVELOPMENT: This work reports on new genes and critical regions in syndromes with microdeletion, such as Wolf-Hirschhorn, Smith-Magenis and Sotos--which must be taken into account in the genetic diagnosis--and new microduplications like 15q11-q13, which is associated to a behavioural phenotype of autism. The application of new molecular techniques, such as fluorescent in situ hybridisation (FISH) with multiple telomere probes, MLPA (multiplex ligation-dependent probe amplification) and array-CGH (microarray based on compared genomic hybridisation), have shown the important role played by subtelomeric and interstitial rearrangements in the aetiology of MR. Subtelomeric alterations contribute to between 5 and 7% of cases of idiopathic MR, the higher proportion corresponding to deletions, one of the most common of which is deletion 1p36. Studies that evaluate the global genome in idiopathic MR detect from 7% to 20% of cases with anomalies, the interstitial type being more frequent than the subtelomeric kind. CONCLUSIONS: The application of new technologies to idiopathic MR opens up a promising new field for the diagnosis of new syndromes with submicroscopic alterations, so that a prognosis can be determined, treatment can be improved and the risk of relapse can be defined.

Chromosome Disorders↗