Trisomía 22 en un recién nacido de 39 semanas / Trisomy 22 in a newborn infant of 39 weeks

En este reporte presentamos el caso de un paciente masculino nacido de 39 semanas, producto de tercera gestación (dos abortos anteriores) de madre de 38 años y padre de 46 años. Las características clínicas del paciente incluyen macrocefalia, fontanela anterior amplia con diástasis de sutura sagital, escleras grisáceas, pabellones auriculares displásicos de implantación baja, raíz nasal corta, pliegue simiano en mano derecha e hirsutismo. Se obtienen tomografía axial computarizada de cráneo y resonancia magnética cerebral que presentan agenesia de cuerpo calloso y dilatación del asta occipital de los ventrículos laterales. El cariotipo en sangre periférica evidencia trisomía parcial del cromosoma 22 (47, XY+22, del (22) (q11.2qter)). El paciente requirió 7 días de hospitalización y se da egreso hospitalario en buenas condiciones generales pero con un retardo psicomotor severo e hipotonía generalizada. Dadas las malformaciones estructurales severas que se presentan en este síndrome, los embarazos a término y la supervivencia postnatal de los niños con trisomía 22 son eventos muy raros. El caso de este paciente complementa otros reportes ilustrando que la trisomía 22 puede sobrevivir más allá del nacimiento.

In this report, we present the case of a male patient who was born 39 weeks, the product of third gestation (two previous abortions) with a 38 year old mother and a 46 year old father. The clinical characteristics of the patient include macrocephaly, extensive anterior fontanelle with diastasis recti sagittal suture, ochronosis grayish pavilions dysplastic headphones lowset, short nasal root, simian crease in her right hand and hirsutism. We obtained a computerized axial tomography of skull and a brain magnetic resonance with agenesis of the corpus callosum and dilation of the ASTA occipital of the lateral ventricles. The karyotype in peripheral blood evidence partial trisomy of chromosome 22 (47, XY+22, del (22) (q11.2qter)). The patient required 7 days of hospitalization and was released from the hospital in good condition overall, but with a psychomotor retardation and severe generalized hypotonia. Given the severe structural malformations that are present in this syndrome, the term pregnancy and post birth survival of children with trisomy 22 are very rare events. The case of this patient complements other reports illustrating that trisomy 22 can survive beyond birth.

Sole Trisomy 22 Not Associated with inv(16) in Myelodysplastic Syndrome / 이화의대지

Trisomy 22 is closely associated with inv(16) or t(16;16) and could be a marker of cryptic rearrangement of CBFB/MYH11 in acute myeloid leukemia (AML). Trisomy 22 not associated with CBFB/MYH11 rearrangement is a rare event. Here, we report a case diagnosed as refractory anemia with excess blasts-2 (RAEB-2) with sole trisomy 22 in the absence of CBFB/MYH11 rearrangement. The cytogenetic study of bone marrow cells disclosed trisomy 22 in 10% of metaphase cells analyzed. The other chromosomal abnormalities were not found. Fluorescence in situ hybridization (FISH) using CBFB/MYH11 probe to detect cryptic inv(16)(p13q22) showed negative result. We also excluded rearrangements of chromosome 5, 7, 8, 20, and ETV6 by FISH. Sole trisomy 22 not associated with inv(16) is a true entity.

A Case of Supernumerary Derivative (22) Syndrome Resulting from a Paternal Balanced Translocation

Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 3:1 meiotic segregation of the paternal translocation carrier.

Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses.

A case of partial trisomy 22 due to paternal 11;22 translocation, t(11;22)(q25;q13.1) / 대한산부인과학회잡지

Trisomy 22 is a frequent finding in spontaneous abortion. However, survival to term is tenuous. So far there have been about 85 cases of trisomy 22. Most of all cases, trisomy 22 was result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. These patients have a supernumerary, abnormal chromosome 22 [der(22)], in their chromosome constitution: 47,XX(or XY),+der(22),t(11q;22q). Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We now report a viable case of 47,XX,+der(22)t(11;22)(q25;q13.1) resulting from 3:1 segregation in paternal translocation.

A Case of Trisomy 22 with Pulmonary Hypoplasia in a Liveborn Infant

We report a case of trisomy 22 in a liveborn male infant which was confirmed by fluorescence in situ hybridization(FISH), macrocultures and GTG-banding, and RHA-banding procedures of peripheral white blood cells. The infant showed lung hypoplasia, which is a unique presentation, with other clinical manifestations of previously reported cases of trisomy 22, such as intrauterine growth retardation, cleft palate, micrognathia, large atrial septal defect, limb anomalies, imperforate anus, and hypospadias. Our report gives weight to the previously reported observation that pulmonary hypoplasia may be associated in trisomy 22.