Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant

Partial trisomy 13 is a rare syndrome that usually culminates in death within the first six months of the infant’s life. We present a rare case of partial trisomy 13q with exclusive clinical manifestations. The full-term male baby was born by normal vaginal delivery, his birth weight was 3500 grams, and head circumference was 30 cm. He had dysmorphic features in the form of microcephaly, trigonocephaly, depressed nose bridge, hypotelorism, long philtrum, high arch palate, left-sided inguinal hernia, hydrocele, and laryngomalacia. He was operated for pyloric stenosis at the age of 28 days. He also had left-sided severe pelvic-ureteral junction stenosis which was repaired by nephrostomy followed by pyeloplasty. Furthermore, he had right-sided vesicoureteral reflux grade III, right-sided hydronephrosis, small ventricular septum defect, small atrial septum defect, left lung lower lobe sequestration, and craniosynostosis of metopic suture. The baby had global developmental delay and failure to thrive. Cytogenetic study showed a 46,XY, der(8)t(8;13)(p23;q14) karyotype, emphasizing a partial trisomy 13q syndrome with a concomitant partial monosomy in 8p. The baby passed away, in the intensive care unit, at the age of 7 months due to respiratory failure resulting from recurrent chest infections. This is the first reported case of a partial trisomy 13q associated with chromosome 8 with unique clinical presentations. Cytogenetic study for both parents is recommended in order to pinpoint the origin of the translocation and to provide the proper counseling for the family.

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Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q

Pediatric and Developmental Pathology ◽

10.1007/s10024-005-0041-8 ◽

2005 ◽

Vol 8 (4) ◽

pp. 497-503 ◽

Cited By ~ 7

Author(s):

J. M. De Pater ◽

P. G. J. Nikkels ◽

M. Poot ◽

M. J. Eleveld ◽

R. H. Stigter ◽

...

Keyword(s):

Distal Part ◽

Chorionic Villus ◽

Clinical Manifestations ◽

Horseshoe Kidney ◽

Partial Trisomy ◽

Chromosome Analysis ◽

Chorionic Villus Sampling ◽

Ultrasound Screening ◽

Partial Monosomy ◽

Thymic Development

During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal hydrops were found and prompted chorionic villus sampling at 13 weeks 2 days. Chromosome analysis showed an unbalanced karyotype with an abnormal chromosome 14. The mother was a carrier of a translocation karyotype 46,XX,t(13;14) (q34;q32.2). In the fetus this gave rise to a partial trisomy 13q and partial monosomy 14q (fetal karyotype: 46,XX,der[14]t[13;14][q34;q32.2]). By Array-CGH on DNA extracted from a postmortem skin culture, a duplication of approximately 1.7 Mbp of the distal part of chromosome 13q34 and a deletion of approximately 6.0 Mbp of the distal part of chromosome 14q32.2 was demonstrated. Postmortem findings after termination of pregnancy at 14 weeks 6 days included, among others, a severe hypoplasia of the median part of the maxilla, no recognizable nose, a broad median palatoschisis, nonlobulated lungs, a horseshoe kidney with multicystic dysplasia, and decreased development of cortical cellularity in the thymus. These clinical manifestations and autopsy findings of the fetus are compared with those of previously published cases and the possible involvement in this pathology of the YY1 and JAG2 transcription factors and the BCL11b and SIVA-1 regulators of thymic development is discussed.

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Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation

Journal of Child Neurology ◽

10.1177/0883073813483571 ◽

2013 ◽

Vol 28 (11) ◽

pp. 1463-1466 ◽

Cited By ~ 1

Author(s):

Giovanni Baranello ◽

Claudia Cesaretti ◽

Fabio Zambonin ◽

Rosario Casalone ◽

Paola Granata ◽

...

Keyword(s):

De Novo ◽

Partial Trisomy ◽

Trisomy 13 ◽

Partial Monosomy ◽

De Novo Translocation

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Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy

Molecular Syndromology ◽

10.1159/000516058 ◽

2021 ◽

pp. 1-7

Author(s):

Monica Martin-de Saro ◽

Zyndia Compean ◽

Karina Aguilar ◽

Luz María González-Huerta ◽

Lautaro Plaza-Benhumea ◽

...

Keyword(s):

Pulmonary Hypertension ◽

Hypertrophic Cardiomyopathy ◽

Phenotypic Expression ◽

Clinical Manifestations ◽

Partial Trisomy ◽

Trisomy 13 ◽

Cardiac Insufficiency ◽

Facial Dysmorphism ◽

Chromosomal Imbalance ◽

Microarray Assay

Individuals with 3p deletion show a great clinical variability. Apparently, a 1.5-Mb terminal deletion, including the <i>CRBN</i> and <i>CNTN4</i> genes, is sufficient to cause this syndrome. Partial trisomy 13q is a rare chromosomal abnormality with a variable phenotypic expression, but in most cases, patients have a phenotype resembling complete trisomy 13. The aim of the present study is to describe a 9-month-old Mexican male patient with 3p deletion/13q duplication and a novel clinical finding. He presented with facial dysmorphism and multiple congenital alterations. Echocardiogram revealed cardiac insufficiency with hypertrophic cardiomyopathy and pulmonary hypertension, not previously reported. Karyotype from the patient and his father were 46,XY,add(3)(p26) and 46,XY,t(3;13), respectively. Microarray assay of the proband exhibited an approximately 2.6-Mb loss at terminal 3p26.3 and a 27.7-Mb gain of the long arm in terminal chromosome 13 at q31.1q34. A chromosomal imbalance with a partial trisomy 13q31.1q34 and monosomy 3p26.3 of paternal origin were detected. Microarray assay of both parents were normal. The proband has a cardiomyopathy not previously reported. These data enrich the spectrum of clinical manifestations in 3p deletion/3q duplication chromosomopathy.

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The lower lobe resection of left lung in infant after surgical treatment coarctation of the aorta

CHILDREN’S HEART AND VASCULAR DISEASES ◽

10.24022/1810-0686-2018-15-4-237-241 ◽

2018 ◽

Vol 15 (4) ◽

pp. 237-241

Author(s):

S.A. Kotov ◽

Yu.V. Butrim ◽

A.Yu. Ehrgashov ◽

M.R. Tumanyan

Keyword(s):

Surgical Treatment ◽

Left Lung ◽

Lower Lobe ◽

Coarctation Of The Aorta

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En bloc transdiaphragmatic lung resection for locally advanced hepatocellular carcinoma: a case report

Journal of Surgical Case Reports ◽

10.1093/jscr/rjaa084 ◽

2020 ◽

Vol 2020 (6) ◽

Author(s):

Kit-fai Lee ◽

Randolph H L Wong ◽

Howard H W Leung ◽

Eugene Y J Lo ◽

Charing C N Chong ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Locally Advanced ◽

Left Lung ◽

Lower Lobe ◽

Uneventful Recovery ◽

Advanced Hepatocellular Carcinoma ◽

Right Hepatectomy ◽

En Bloc ◽

Liver Recurrence ◽

Lung Base

Abstract A 56-year-old man presented with an 11-cm hepatocellular carcinoma (HCC) at segment 7 of liver. To induce left liver hypertrophy, a sequential transarterial chemoembolization (TACE) and portal vein embolization before right hepatectomy were adopted. However, the tumor further increased in size despite TACE and invaded through the diaphragm to the right lung base. Anterior approach right hepatectomy with en bloc wedge resection of the involved right lower lobe of lung by endovascular staplers via transdiaphragmatic approach was performed. The diaphragmatic defect was closed with Goretex mesh. Patient made an uneventful recovery. Pathology confirmed a 12.5 cm poorly differentiated HCC invading through diaphragm to lung. During follow-up, patient developed a 6 cm recurrence at left lung base 17 months after surgery for which he received sorafenib therapy. However, the lung mass further increased in size with new liver recurrence at segment 3 despite treatment. He succumbed 2 years and 3 months after surgery.

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Esophagus-Like Bronchus: A Noncommunicating Bronchopulmonary Foregut Malformation

International Journal of Surgical Pathology ◽

10.1177/10668969211002255 ◽

2021 ◽

pp. 106689692110022

Author(s):

Jenny L. Weon ◽

Stephen Megison ◽

Charles F. Timmons ◽

Dinesh Rakheja

Keyword(s):

Left Lung ◽

Lower Lobe ◽

Tracheobronchial Tree ◽

Pulmonary Infections ◽

Bronchopulmonary Foregut Malformation ◽

Radiologic Examination ◽

Foregut Malformation

We describe a previously unreported bronchopulmonary foregut malformation wherein a segment of a bronchus of the lower lobe of the left lung in a 4-year-old girl was entirely esophageal in structure. No communication was identified between the tracheobronchial tree and the esophagus by radiologic examination or at surgery. The esophagus-like bronchus was associated with an adjacent atretic bronchus and a downstream cavity in the lower lobe of the left lung. The child sought clinical attention because of recurrent pulmonary infections localized to the lower lobe of the lung. We posit that this esophagus-like bronchus is a novel noncommunicating bronchopulmonary foregut malformation.

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Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01848-8 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Xiaowen Hu ◽

Guofeng Zhang ◽

Xianmeng Chen ◽

Kai-Feng Xu

Keyword(s):

Spontaneous Pneumothorax ◽

Delayed Diagnosis ◽

Clinical Manifestations ◽

Lower Lobe ◽

Skin Lesions ◽

Jiangsu Province ◽

Chinese Patients ◽

Renal Tumors ◽

Pulmonary Cysts ◽

Exon 11

Abstract Objective To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. Methods We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. Results Twenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18–84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1–6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%). Conclusions Although BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.

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The link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy‐13 mosaicism: New evidences and further genetic/pathogenetic insights

Pediatric Dermatology ◽

10.1111/pde.14540 ◽

2021 ◽

Author(s):

Riccardo Forconi ◽

Stefania Bigoni ◽

Lucrezia Pacetti ◽

Cristina Host ◽

Natale Schettini ◽

...

Keyword(s):

Hidradenitis Suppurativa ◽

Partial Trisomy ◽

Trisomy 13

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Thoracic duct injury after decortication of lung, new technique to repair thoracic duct in this challenging situation: A case report

Asian Cardiovascular and Thoracic Annals ◽

10.1177/0218492321997080 ◽

2021 ◽

pp. 021849232199708

Author(s):

Nandkishore Kapadia ◽

Saumya Sekhar Jenasamant ◽

Ganesh Sohan Singh Rawat ◽

Shailesh Kamkhedkar ◽

Pratik Shah ◽

...

Keyword(s):

Thoracic Duct ◽

Left Lung ◽

Lower Lobe ◽

Late Complications ◽

Patch Repair ◽

Double Lumen Tube ◽

Complex Case ◽

Thoracic Duct Injury ◽

Thoracic Duct Ligation ◽

Duct Ligation

Background Chylothorax is a rare form of pleural effusion that can be associated with both traumatic and non-traumatic causes. Very few patients respond to conservative line of therapy. Thoracic duct ligation is often the treatment of choice in post-surgical patients; however, the optimal treatment of this disease process after traumatic injury remains unclear. Case presentation: We present the case of a 46-year-old woman with thoracic duct injury secondary to decortication for post-pneumonic empyema. Conservative therapy and pleurodesis done twice failed. She developed severe cachexia losing 15 kg in 30 days. She was referred to our center for ligation of thoracic duct. Preoperative lymphangiography located the duct injury in upper part of mediastinum. Computerized tomography scan of chest showed collapse of left lower lobe and thickened left pleura, indicating a significant pericardial effusion. She underwent decortication of left lung, pericardial window, and native pericardial patch repair of thoracic duct. Results and Conclusions: In this unusual and complex case, successful resolution of the chyle leak was achieved with new surgical technique of patch repair. The patient recovered well and was now on a normal diet. She has put on 12 kg in four months. We have avoided late complications of thoracic duct ligation by this technique. This nouvelle technique may be recommended as it is simple and effective. Ligation of thoracic duct carries late complications. Isolating right lung by double lumen tube may cause severe hypoxia as left-sided lung is not expanded as in this case.

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