Pure distal 9p deletion in a female infant with cerebral palsy.

We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3-->pter) in a l 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.

Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl.

We report on a 12-year-old girl presenting with mental retardation, trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, hypertelorism, a flattened nasal bridge, a short nose, anteverted nares, a long philtrum, a small mouth, micrognathia, low-set ears, a short neck, long digits, flexion deformity of the fingers of the hands, hypoplasia of the labia majora, hyperplasia of the labia minora, flat feet, dysphagia, frequent regurgitation, prominent esophageal dilation, and achalasia. Seizures were noted since 5 years of age. Cytogenetic analysis of her peripheral blood revealed a karyotype of 46,XX, der(9)t(1;9)(p36.22;p22.2)pat. Achalasia, an uncommon esophageal motor disorder, has not been previously described in association with either a deletion of 9p or a duplication of 1p.

Discrepancy between the fetus and extra-embryonic tissues in prenatally detected mosaic distal 5p deletion.

Discrepancy between the fetus and extra-embryonic tissues in prenatally detected mosaic distal 5p deletion: We present clinical and cytogenetic data on a second-trimester fetus with mosaic del(5)(p15.1) and the extra-embryonic tissues with a normal karyotype. A 34-year-old woman, gravida 2, para 0, underwent genetic amniocentesis at 20 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes revealed mosaicism for a distal 5p deletion, mos 46,XY,del(5)(p15.1)[4]/46,XY[26]. The pregnancy was terminated subsequently. Postnatally, the fetus displayed a triangular face, hypertelorism, epicanthal folds, low-set ears, and micrognathia. A karyotype of mos 46,XY,del(5)(pl 5.1)/46,XY was found in the liver, lungs, skin, and cord blood, whereas, the placenta, amnion, and umbilical cord had a karyotype of 46,XY. Our observation of fetoplacental, fetoamniotic, and fetoumbilical discrepancies shows a limitation of using placenta, amnion, and umbilical cord as confirmatory tools for prenatally detected mosaic distal 5p deletion. Our case also reinforces the notion that amniocentesis offers a more reliable diagnosis, compared to chorionic villus sampling.

Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2).

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. Fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders.

Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence.

We present the first report of a female fetus with concomitant isochromosome 18q [i(18q)] and cloacal dysgenesis sequence. Prenatal sonographic examination at 15 weeks' gestation showed intra-uterine growth retardation, a normal brain, a normal spine, congenital megacystis and oligohydramnios. The pregnancy was terminated. The abortus displayed dysmorphic features of a high forehead, hypertelorism, a prominent nose with a bulbous tip, median cleft lip and palate, micrognathia, low-set ears, a short neck, a joint contracture at the wrist, prominent heels and pseudo-hermaphroditism. Necropsy confirmed an imperforate anus, megacystis, a phallic structure and cloacal dysgenesis sequence. Postnatal chromosomal investigation proved a pure de novo i(18q). Molecular genetic analysis by polymorphic microsatellite markers confirmed the maternal origin of the aberrant chromosome. The coexistence of cloacal dysgenesis sequence and i(18q) in this case shows a correlation between the disturbance of the caudal developmental field and the chromosomal abnormality with monosomy 18p and trisomy 18q. Our presentation also demonstrates the importance of perinatal cytogenetic analysis in malformed fetuses in order to uncover underlying genetic disorders.

Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis.

BACKGROUND: Pregnancies complicated by fetal cystic hygroma in the second and third trimesters are often associated with hydrops fetalis, oligohydramnios or intrauterine fetal death which may make genetic assessment more difficult. We investigated the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis in cytogenetic evaluation of cystic hygroma under such circumstances. METHODS: Thirty-five fetuses of cystic hygroma associated with hydrops fetalis, oligohydrammos, or intrauterine fetal death were studied. All fetuses were delivered at Mackay Memorial Hospital, Taipei, Taiwan between January, 1987 and July, 1995. Data collected included maternal age, prenatal sonograms, gestational age at diagnosis, fetal karyotypes and diagnostic procedures. RESULTS: Of 35 fetuses, all had hydrops fetalis, 19 had suffered IUFD at the time of diagnosis, and 10 had severe oligohydramnios. Cytogenetic studies were performed via amniocentesis, postmortem chorionic villus sampling, or cystic hygroma paracentesis. Successful karyotyping was achieved in 32 fetuses and the karyotype of 45,X was found in 24 fetuses. In cases with IUFD, successful karyotyping rates on cells from amniotic fluid, chorionic villi and cystic hygroma fluid were 88.9% (8 of 9), 69.2% (9 of 13) and 20% (1 of 5), respectively, whereas, in cases with living hydropic fetuses, successful karyotyping was achieved in 12 of 12 amniotic fluid and 5 of 5 cystic hygroma fluid samples. CONCLUSIONS: Amniocentesis is a better method for cytogenetic evaluation of fetal cystic hygroma associated with intrauterine fetal death than postmortem chorionic villus sampling and cystic hygroma paracentesis. However, in the case with a living hydropic fetus and oligohydramnios, cystic hygroma paracentesis appears to be a practical alternative for cytogenetic assessment.