ABSTRACT
Complete monosomy mosaic of chromosome 21 is a rare disorder. The syndromic features are highly variable. This study describes a girl of Mexican origin with complete monosomy 21 in mosaicism with novel findings, including cortical atrophy, macrostomia, pectum excavatum and immune deficiencies. Parental karyotypes were normal. FISH analysis with probes from 21q22.1-q22.2 region and centromere of X DNA probe was performed on peripheral blood lymphocytes whereas 21q22.1-q22.2 and 21q, 4p, 4q subtelomeric DNA probes were tested in fibroblasts. We propose that the monosomy 21 mosaicism is the cause of the survival of children with more than 4 months of age.
Subject(s)
Monosomy/physiopathology , Mosaicism , Chromosomes, Human, Pair 21/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Karyotype , Lymphocytes/pathology , Monosomy/geneticsABSTRACT
OBJECTIVE: To address the characteristics of hearing loss in patients with Turner syndrome (TS), we evaluated hearing levels of patients with TS and analyzed causative factors. STUDY DESIGN: Thirty-three patients with TS (8 to 40 years of age) were studied through the use of audiological measurements, and causative factors were explored. RESULTS: Twenty cases (35 of 66 ears tested) showed high-frequency (8 kHz) sensory neural hearing loss (HFQ-SNHL). Fifteen cases (26 ears) and 15 cases (24 ears) of the impaired 20 cases were unresponsive to distortion-product otoacoustic emissions and transient-evoked otoacoustic emissions, respectively. HFQ-SNHL showed little relation to the history of middle ear infection and puberty, although middle ear infections were seen in 11 of the 20 cases. The hearing thresholds at high frequencies were correlated with age and body height (P < .001). The age-dependent increase in hearing thresholds in the high frequencies was more apparent in patients with TS with monosomic 45, X than in those with the mosaic type (P < .05). CONCLUSIONS: More than 60% of patients with TS had HFQ-SNHL. Because the increase in hearing threshold at high frequencies was shown to depend on karyotype and aging, regular otological examination is important for the determination of proper treatment.
Subject(s)
Hearing Loss/physiopathology , Turner Syndrome/complications , Turner Syndrome/physiopathology , Acoustic Impedance Tests , Adolescent , Adult , Age Factors , Audiometry, Evoked Response , Audiometry, Pure-Tone , Auditory Threshold , Body Height , Child , Chromosomes, Human, X , Evoked Potentials, Auditory , Female , Hearing Loss/genetics , Hearing Loss, High-Frequency/physiopathology , Hearing Loss, Sensorineural/physiopathology , Humans , Monosomy/genetics , Monosomy/physiopathology , Otoacoustic Emissions, Spontaneous , Severity of Illness Index , Turner Syndrome/geneticsABSTRACT
El hidrops fetal no inmune (HFNI) es una importante causa de pérdida perinatal, con mortalidad que varía entre 50-100 por ciento. El HFNI es una condición causada por un grupo heterogéneo de patologías. La fisiopatología del desorden que lo produce se conoce en muchos casos. Sin embargo, existen muchos casos en que la causa no se puede detérminar. Presentar un caso de hidrops fetal no inmune, el estudio realizado y la revisión de la literatura. Un caso de hidrops fetal no inmune, fue diagnósticado por ultrasonido antenatal a las 298 semanas de gestación. El feto murió al nacer, el cariotipo de muestra de sangre obtenida del cordón umbilical fue anormal. El examen postmorten fue compatible con Síndrome de Tuner e Higroma Quístico. En el presente caso el HFNI fue causado por la cromosomopatía tipo monosomía X y la anatomía linfática denominada higroma quístico. Todos los casos de HFNI deben ser evaluados prenatalmente para un adecuado diagnóstico y tratamiento cuando la mortalidad es prevenible.